Patients & Caregivers

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Patients & Caregivers
Disorder Directory NEW

If your child or someone you know has recently been diagnosed with a neurologic condition, we’re here to help you make an informed decision on…

The septum pellucidum (SP) is a thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain.…

Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or…

Acute Cerebellar Ataxia

Author: Alison L. Christy, MD, PhD     Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon  Reviewed: August 2022 SUMMARY Acute cerebellar ataxia (ACA) is a specific type of…

Acute Disseminated Encephalomyelitis (ADEM)

Author: Alison L. Christy, MD, PhD  Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon  Reviewed: July 2021  SUMMARY Acute Disseminated Encephalomyelitis (ADEM) is most likely an autoimmune disease caused by an infection. It…

X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve…

Agenesis of the Corpus Callosum

Authors: Cara Piccoli, MD; Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia Reviewed: August 2021 SUMMARY Agenesis of the corpus callosum (ACC) is a rare…

Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric…

Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent…

Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of…

Alexander disease is one of a group of neurological conditions known as the leukodystrophies.  Leukodystrophies are disorders that result from abnormalities in myelin, the “white matter”…

Alpers’ disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease.  It is…

Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by…

Alternating Hemiplegia of Childhood

Author: Mohamad A. Mikati, MD; Lyndsey Prange MSN, CPNP, Duke University, Durham, North Carolina Reviewed: November 2021 SUMMARY Alternating hemiplegia of childhood (AHC) is a brain…

Alzheimer’s disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may…

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal disease that affects the nerve cells (neurons) in that brain and spinal cord that  control voluntary muscle movement.  Our voluntary…

Anencephaly

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine    Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon   Reviewed: September 2022  SUMMARY Anencephaly…

Angelman Syndrome

Authors: Douglas Nordli, MD, Mayo Clinic Florida/Nemours Jacksonville Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon Reviewed: April 2022 SUMMARY Angelman syndrome…

Antiphospholipid syndrome (APS) is an autoimmune disorder caused when antibodies — immune system cells that fight off bacteria and viruses — mistakenly attack healthy body…

Apraxia (called “dyspraxia” if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite…

Arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that…

Arachnoiditis is caused by the inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord.  The arachnoid can…

Arginase-1 Deficiency (ARG1-D)

Author: Alexander Fay, MD, PhD UCSF Benioff Children’s Hospital  Reviewed: November 2021  SUMMARY Arginase-1 deficiency (ARG1-D) is a genetic disorder caused by lack of an enzyme called arginase-1, or ARG1. ARG1 breaks…

Aromatic L-Amino Acid Decarboxylase Deficiency

Authors: Mekka R. Garcia, MD, NYU Grossman School of Medicine; Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon …

Arteriovenous malformations (AVMs) are abnormal, snarled tangles of blood vessels that cause multiple irregular connections between the arteries and veins.  These malformations most often occur…

Asperger syndrome (AS) is a developmental disorder.  It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a…

Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs…

Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their…

Atrial fibrillation (AF) describes the rapid, irregular beating of the left atrium (upper chamber) of the heart. These rapid contractions of the heart are weaker than normal…

Attention Deficit-Hyperactivity Disorder

Author: Alexis Dallara-Marsh, MD, Neurology Group of Bergen County - Ridgewood, NJ  Reviewed: April 2021  SUMMARY Attention-deficit/hyperactivity disorder (ADHD) can manifest in different ways. In children, it usually appears…

Autism Spectrum Disorder

Authors: Alexis Dallara-Marsh, MD, Neurology Group of Bergen County, Ridgewood, NJ    Regina M. Troxell, MD, Rady Children’s Hospital, San Diego, CA/ Cortica, San Diego, CA   Reviewed:…

Acute or short-term low back pain generally lasts from a few days to a few weeks. Most acute back pain is the result of trauma…

Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene…

Batten Disease

Author: Erika Augustine, MD, MS, Kennedy Krieger Institute Reviewed: February 2022 SUMMARY Batten disease refers to a group of disorders that affect the nervous system.…

Behcet’s disease is a rare, chronic inflammatory disorder. The cause of Behcet’s disease is unknown, but current research suggests that both genetic and  environmental factors…

Bell’s Palsy

Author: Paige Kalika, DO University of Miami Health System  Reviewed: March 2022 SUMMARY Bell’s palsy is facial weakness that appears suddenly or rapidly and that…

Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a…

Binswanger’s disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white…

The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused…

Brachial Plexus Palsy

Authors: Jeffrey Swarz, MD; Angela M. Curcio, MD  Division of Pediatric Neurology, Floating Hospital at Tufts Medical Center, Boston, MA  Reviewed: May 2022 SUMMARY Brachial…

Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column.  The brain and spinal…

Breath-Holding Spells

Author: Sonal Bhatia MBBS, MD Medical University of South Carolina   Reviewed: June 2021  SUMMARY Breath-holding spells are short spells of time during which a child stops breathing. They are…

Brown-Sequard syndrome (BSS) is a rare neurological condition characterized by a lesion in the spinal cord which results in weakness or paralysis (hemiparaplegia) on one…

Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified…

Carpal tunnel syndrome (CTS) occurs when  the median nerve, which runs from the forearm into the palm of the hand,  becomes pressed or squeezed at…

CDKL5 Deficiency Disorder

Authors: Rajsekar R. Rajaraman, MD, MS, UCLA Mattel Children's Hospital Jordan Eisner, BA, UC Davis School of Medicine Reviewed: November 2021 SUMMARY CDKL5 deficiency disorder…

Central cord syndrome is the most common form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser…

Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and…

Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in…

Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by a…

Cerebellar degeneration is a process in which neurons (nerve cells) in the cerebellum – the area of the brain that controls coordination and balance –…

Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.  Cerebellar hypoplasia is a feature of a…

Cerebral Adrenoleukodystrophy

Author: Geetanjali Rathore, MD; University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, NE  Reviewed: July 2021  SUMMARY Cerebral adrenoleukodystrophy (cerebral ALD, or CALD) is a genetic…

A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood.  A cerebral aneurysm…

Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial…

Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain…

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Authors: Mekka Garcia, MD,  NYU Grossman School of Medicine    Alison L. Christy, MD, PhD , Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon   Reviewed: September 2022  SUMMARY CADASIL (Cerebral…

Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in…

Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow.…

Cerebral Palsy

Authors: Akash Virupakshaiah, MD; Sonika Agarwal, MBBS, MD Children’s Hospital of Philadelphia Perelman School of Medicine at the University of Pennsylvania Reviewed: May 2021 JUMP…

Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities,…

Charcot-Marie-Tooth Disease

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine   Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon   Reviewed: July 2022 SUMMARY Charcot-Marie-Tooth…

Chiari malformations (CMs) are structural defects in the base of the skull and the cerebellum, the part of the brain that controls balance. When part…

Childhood Stroke

Author: Adam Kirton, MD, University of Calgary/Alberta Children’s Hospital Reviewed: April 2021  SUMMARY A stroke happens when blood vessels in the brain get blocked or broken. The result of a…

Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the…

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which…

Authors: Amanda Yaworski, MD; Jenna Klotz, MD, Stanford University Reviewed: November 2021 SUMMARY Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a disorder that affects the peripheral…

While acute pain is a normal sensation triggered in the nervous system to alert you to possible injury and the need to take care of…

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial…

Colpocephaly is a congenital brain abnormality in which the occipital horns – the posterior or rear portion of the lateral ventricles (cavities) of the brain…

A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in…

Complex regional pain syndrome (CRPS) is a condition marked by severe, prolonged chronic pain (lasting more than six months) that may be constant. Symptoms vary in intensity and duration. …

All forms of myasthenia are due to problems in the communication between nerve cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals…

Congenital Myopathies

Author: Alexander Fay, MD, PhD UCSF Benioff Children’s Hospital Reviewed: June 2022 SUMMARY Congenital myopathies (CMs) are genetic diseases of the muscles connected to the…

Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the…

Craniosynostosis

Authors: Lauren Shin, MD; Angela M. Curcio, MD Floating Hospital at Tufts Medical Center, Boston, MA   Reviewed: April 2022 SUMMARY Craniosynostosis occurs when one or…

Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, fatal brain disorder. Onset of symptoms typically occurs at about age 60. There are three major categories of…

Cushing’s syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body’s tissues to excess levels of cortisol – a hormone…

Dandy-Walker Malformation

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine  Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon Reviewed:…

Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces…

Deep brain stimulation (DBS) is a surgical procedure used to treat several disabling neurological symptoms—most commonly the debilitating motor symptoms of Parkinson’s disease (PD), such…

Dementia is the loss of cognitive functioning—the ability to think, remember, problem solve or reason—to such an extent that it interferes with a person’s daily…

Dementia with Lewy bodies (DLB) is one of the most common types of progressive dementia. The central features of DLB include progressive cognitive decline, “fluctuations” in…

Dermatomyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness.…

Developmental dyspraxia is a disorder characterized by an impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the…

Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems…

Dravet Syndrome

Authors: Spoorthi Jagadish, MD, MBBS; Sreenath Thati Ganganna, MD, MBBS   University of Iowa, Stead Family Children's Hospital, Iowa City, IA  Reviewed: August 2021  SUMMARY Dravet syndrome is a severe and rare…

Duchenne Muscular Dystrophy

Author: Geetanjali Rathore, MD, University of Nebraska Medical Center, Children’s Hospital and Medical Center, Omaha, NE Reviewed: November 2021 SUMMARY Duchenne muscular dystrophy (DMD) is…

Dysautonomia

Author: Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon Reviewed: October 2021 SUMMARY Dysautonomia is a medical…

Dysgraphia is a neurological disorder characterized by writing disabilities. Specifically, the disorder causes a person’s writing to be distorted or incorrect. In children, the disorder…

Dyslexia

Authors: Benjamin Joffe Schindel, MD, MPH, Kennedy Krieger Institute; Alison L. Christy, MD, PhD , Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon   Reviewed: July 2021  SUMMARY…

Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia.  Symptoms include seizures, tremor,…

The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes…

Empty Sella Syndrome (ESS) is a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the…

Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter…

Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These…

Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria,…

Epilepsy

Authors: Krista Grande, MD; Nan Lin, MD  Cincinnati Children’s Hospital Medical Center  Reviewed: July 2021  JUMP TO Summary Signs And Symptoms Causes Investigations Treatment And Therapies Outlook…

Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)

Authors: Theresa Estiphan, MD Michigan Medicine, University of Michigan   Charuta Joshi, MBBS, MD University of Texas Southwestern – Dallas Children’s Hospital  Reviewed: March 2022 …

The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused…

Essential Tremor

Author: Howard S. Schub, MD, retired   Drawn from the work of: Michael Pranzatelli, MD, PhD  Reviewed: June 2021  SUMMARY Essential tremor is a neurological condition that causes hands to…

Fabry Disease

Authors: Margaret Means, MD; Sonika Agarwal, MBBS, MD  Children’s Hospital of Philadelphia  Reviewed: January 2022  JUMP TO Summary Description Signs And Symptoms Causes Lab Investigations Treatment Outlook Related…

Fahr’s Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including…

Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They…

Farber’s disease, also known as Farber’s lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils,…

Febrile Seizures

Author: Sonal Bhatia MBBS, MD Medical University of South Carolina Reviewed: May 2021 SUMMARY Febrile seizures are the most common type of seizures in healthy children. They…

Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge.…

Foot drop describes the inability to raise the front part of the foot due to weakness or paralysis of the muscles that lift the foot.…

Friedreich Ataxia

Author: David R. Lynch, MD, PhD  Children’s Hospital of Philadelphia  Reviewed: July 2022 SUMMARY Friedreich ataxia (FRDA) is an inherited genetic disease. It causes difficulty…

Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick’s disease,…

Functional Movement Disorder

Authors: Jamie Klein; Kathryn Elkins, MD   Emory University School of Medicine Jamika L. Hallman-Cooper, MD Children’s Healthcare of Atlanta  Reviewed: July 2021 SUMMARY In functional movement disorder (FMD), a child has abnormal, involuntary body movements.  FMD…

Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases.  Lipids are fatty materials that include oils, fatty acids, waxes, and…

The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids.…

Gerstmann-Straussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder. It is almost always inherited and is found in only a few families around the…

Gerstmann’s syndrome is a cognitive impairment that results from damage to a specific area of the brain — the left parietal lobe in the region…

Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.  The majority of children with GAN…

Glossopharyngeal neuralgia (GN) is a rare pain syndrome that affects the glossopharyngeal nerve (the ninth cranial nerve that lies deep within the neck)  and causes…

Glut1 Deficiency Syndrome

Author: Rachit Patil, MD , Brown University, Providence, Rhode Island  Reviewed: January 2022   SUMMARY Glucose transporter type I deficiency syndrome (GLUT-1 DS) disorders are rare…

Guillain-Barré Syndrome

Authors: Mekka Garcia, MD , NYU Grossman School of Medicine; Alison L. Christy, MD, PhD , Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon   Reviewed: July 2021  SUMMARY Guillain-Barré syndrome (GBS) is a rare…

Headache

Author: Priscilla Chee, MD, Loma Linda University  Reviewed: May 2021 SUMMARY Headaches are very common in childhood. Most of the time, children have headaches for the same reasons adults do. Just as…

Hemicrania continua is a chronic and persistent form of headache marked by continuous pain that varies in severity, always occurs on the same side of…

Hemifacial spasm is a neuromuscular disorder characterized by frequent involuntary contractions (spasms) of the muscles on one side (hemi-) of the face (facial). The disorder…

Hemimegalencephaly

Authors: Bianca C. Kapoor-Heaphy, MD; Sonika Agarwal, MBBS, MD  Children’s Hospital of Philadelphia  Reviewed: October 2022 SUMMARY Hemimegalencephaly (HME) is a rare birth defect. It…

Hemiplegia

Authors: Swati A Karmarkar, MD, Texas Children’s Hospital Shruti Rane, PhD, Kennedy Kreiger Institute, Baltimore, MD Reviewed: July 2021 SUMMARY Hemiplegia involves paralysis or weakness…

Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and…

Hereditary Spastic Paraparesis/Paraplegia

Authors: Michelle R. Christie, MD; Linsley Smith, RN, BSN Scottish Rite for Children – Dallas, Texas  Reviewed: April 2021  SUMMARY Hereditary Spastic Paraparesis/Paraplegia (HSP) causes difficulty walking. In HSP, a person has tight and weak muscles. These tight muscles…

Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused…

Holmes-Adie syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system.  It is characterized by one eye with…

Holoprosencephaly

Authors: Michelle R. Christie, MD; Nancy J. Clegg, BSN, MSN, PhD, CCRP, Scottish Rite for Children – Dallas, Texas  Reviewed: April 2021  SUMMARY Holoprosencephaly (HPE) is a rare…

Homocystinuria

Authors: Margaret Means, MD; Sonika Agarwal, MBBS, MD Children’s Hospital of Philadelphia  Reviewed: November 2021  JUMP TO Summary Description Signs And Symptoms Causes Lab Investigations Treatment And…

Huntington’s Disease

Author: Martha Nance, MD Struthers Parkinson’s Center, Golden Valley, MN, and Huntington Disease Society of America HD Center of Excellence, Hennepin HealthCare, Minneapolis, MN Reviewed:…

Hydranencephaly is a rare condition in which the brain’s cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly…

Hydrocephalus

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine   Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon Reviewed: June 2022 SUMMARY Hydrocephalus…

Hydromyelia refers to an abnormal widening of the central canal of the spinal cord that creates a cavity in which cerebrospinal fluid (commonly known as…

Hypersomnia is characterized by recurrent episodes of excessive daytime sleepiness or prolonged nighttime sleep. Different from feeling tired due to lack of or interrupted sleep…

Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move.…

Hypothalamic Hamartoma

Authors: Nathan T. Cohen, MD, FAAP; William D. Gaillard, MD, FAES  Children’s National Hospital, Washington DC  Reviewed: March 2022 SUMMARY Hypothalamic hamartoma (HH) is a…

Hypotonia

Authors: Ariel Heller, MD, MPH, Medical University of South Carolina  Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia   Reviewed: June 2022 SUMMARY Hypotonia is defined…

Hypoxic Ischemic Encephalopathy

Authors: Akash Virupakshaiah, MD;  Sonika Agarwal, MBBS, MD  Children’s Hospital of Philadelphia , Perelman School of Medicine at the University of Pennsylvania   Reviewed: June 2021  JUMP TO Summary Causes…

Idiopathic Intracranial Hypertension

Authors: Musab Al-Yahia, MD; Angela M. Curcio, MD  Division of Pediatric Neurology, Floating Hospital at Tufts Medical Center, Boston, MA   Reviewed: May 2022 SUMMARY Idiopathic…

Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation…

Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous…

Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain…

Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter…

Infantile Spasms

Author: Shaun A. Hussain, MD UCLA Mattel Children’s Hospital   Reviewed: July 2021  SUMMARY Infantile spasms is a kind of epilepsy. It usually begins in children who are less than…

The inflammatory myopathies are a group of diseases, with no known cause, that involve chronic muscle inflammation accompanied by muscle weakness.  The four main types of…

Iniencephaly is a rare birth defect caused by improper closure of the neural tube (the part of a human embryo that becomes the brain and…

Authors: Travis R. Larsh, MD; Donald L. Gilbert MD, MS; Steve W. Wu, MD; and Loren D.M. Peña, MD, PhD  Cincinnati Children’s Hospital Medical Center …

Issacs’ syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability…

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and…

Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of abnormalities in the…

Kennedy’s disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which…

Author: Wendy Kay Chung, MD, Columbia University Medical Center  Reviewed: February 2022  SUMMARY KIF1A associated neurological disorder (KAND) is caused by one or more disease-causing…

Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by…

Klippel-Feil Syndrome

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine    Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon Reviewed: July 2022 SUMMARY Klippel-Feil…

Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.  Typical symptoms include hemangiomas…

Klüver-Bucy syndrome is a rare behavioral impairment that is associated with damage to both of the anterior temporal lobes of the brain. It causes individuals…

Koolen-de Vries Syndrome

Author: Kenneth A. Myers, MD, PhD, FRCPC Research Institute of the McGill University Medical Centre; Montreal Children’s Hospital, McGill University Health Centre, Montreal, Quebec, Canada  Reviewed: November…

Krabbe Disease

Authors: Jamie Klein; Kathryn Elkins, MD, Emory University School of Medicine; Stephanie R. Keller, MD, Children’s Healthcare of Atlanta  Reviewed: August 2021  SUMMARY Krabbe disease (KD) is a…

Kuru is a rare and fatal brain disorder that occurred at epidemic levels during the 1950s-60s among the Fore people in the highlands of New…

Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction-the site where nerve cells meet muscle cells and help activate the muscles. It is…

Landau-Kleffner Syndrome

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine    Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon    Reviewed: September 2022  SUMMARY Landau-Kleffner…

Learning disabilities are disorders that affect the ability to understand or use spoken or written language, do mathematical calculations, coordinate movements, or direct attention. Although…

Leigh’s disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three…

Lennox-Gastaut Syndrome

Authors: Shaun Ajinkya, MD; Elaine Wirrell, MD,  Mayo Clinic - Rochester, Minnesota  Reviewed: April 2021  SUMMARY Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy. Epilepsy is a seizure disorder. LGS usually begins in the preschool years.…

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease– the gene is…

Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in…

Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths…

Lissencephaly

Authors: Cara Piccoli, MD; Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia  Reviewed: August 2021 SUMMARY Lissencephaly is a rare birth defect involving an abnormally…

Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control…

Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle…

Megalencephaly

Authors: Margaret Means, MD; Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia Reviewed: August 2021 SUMMARY Megalencephaly is a condition in which a child’s brain…

Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development…

Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Encephalitis is inflammation of the brain itself. Anyone can…

Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper…

Meralgia paresthetica is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression…

Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders characterized by the toxic buildup of lipids (fatty materials such as oils and waxes)…

Microcephaly

Authors: Margaret Means, MD; Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia  Reviewed: July 2021  SUMMARY In microcephaly, a child’s head is significantly small for that child’s age and sex. This is…

Migraine

Authors: Harshika Satyarthi, MD, MPH; Aliya Frederick, MD, PhD University of California San Diego Reviewed: June 2021 SUMMARY Migraine is a type of headache caused directly by a disorder of…

Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barré syndrome. It is characterized by abnormal muscle…

Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells’ “power plants.” Nerve cells…

Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and…

Molybdenum Cofactor Deficiency (MoCD) Type A

Author: Geetanjali Rathore, MD University of Nebraska Medical Center  Children’s Hospital and Medical Center, Omaha, NE   Reviewed: July 2021  SUMMARY Molybdenum cofactor deficiency (MoCD) type A is a rare but…

Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible…

The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing,…

Motor Stereotypies

Author: Harvey S. Singer, MD, Professor Emeritus Johns Hopkins Medicine, Clinical Faculty Kennedy Krieger Institute  Reviewed: Janaury 2022 SUMMARY The term “motor stereotypies” is used to…

Moyamoya Disease

Authors: Lisa R. Sun, MD, Johns Hopkins Medicine; Adam Kirton, MD, University of Calgary/Alberta Children’s Hospital  Reviewed: May 2021  SUMMARY Moyamoya disease is a common cause of stroke in children. In moyamoya disease,…

The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within…

The mucopolysaccharidoses are a group of inherited metabolic diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate…

Multi-infarct dementia (MID) is a common cause of memory loss in the elderly.  MID is caused by multiple strokes (disruption of blood flow to the…

Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body to the…

Multiple Sclerosis

Author: Alison L. Christy, MD, PhD  Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon  Reviewed: May 2021  SUMMARY Multiple sclerosis (MS) is an autoimmune disease that affects…

Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems,…

Multiple system atrophy with orthostatic hypotension is the current classification for a neurological disorder that was once called Shy-Drager syndrome. A progressive disorder of the…

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control…

Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal muscles of the body, which are responsble for…

Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed…

The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include…

Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired.  It can affect any muscle…

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early…

Narcolepsy is a chronic neurological disorder caused by the brain’s inability to regulate sleep-wake cycles. Many people with narcolepsy also experience uneven and interrupted sleep…

Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified…

Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive…

Neurofibromatosis Type 1

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine    Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon Reviewed: July 2022 SUMMARY Neurofibromatosis…

Neuroleptic malignant syndrome is a life-threatening, neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. Symptoms include high fever, sweating,…

AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not…

Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people with Lyme disease…

Cytomegalovirus (CMV) is a virus found throughout the world that infects between 50 to 80 percent of all adults in the United States by the…

Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In…

Neuromyelitis Optica

Author: Alison L. Christy, MD, PhD   Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon  Reviewed: June 2021  SUMMARY Neuromyelitis Optica (NMO) is an autoimmune disease that affects the neurons of…

Neuronal Migration Disorders

Authors: Cara Piccoli, MD; Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia Reviewed: August 2021 SUMMARY Neuronal migration disorders (NMDs) are a group of rare…

Neurosarcoidosis is a manifestation of sarcoidosis in the nervous system.  Sarcoidosis is a chronic inflammatory disorder that typically occurs in adults between 20 and 40…

Neurosyphilis is a disease of the coverings of the brain, the brain itself, or the spinal cord. It can occur in people with syphilis, especially…

Neurotoxicity occurs when the exposure to natural or manmade toxic substances (neurotoxicants) alters the normal activity of the nervous system. This can eventually disrupt or…

Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases.  Lipids (fatty materials such as waxes, fatty acids, oils,…

Normal pressure hydrocephalus (NPH) is an abnormal buildup of cerebrospinal fluid (CSF) in the brain’s ventricles, or cavities. It occurs if the normal flow of…

Occipital Neuralgia

Author: Emilie Touma, BA; Sharoon Qaiser, MD, MBBS  University of Kentucky College of Medicine, Lexington, KY Reviewed: January 2022 SUMMARY Occipital neuralgia (ON) is a…

Authors: Katherine Xiong, MD; Courtney J. Wusthoff, MD, MS Division of Child Neurology, Stanford University Reviewed: February 2022 SUMMARY Ohtahara syndrome (OS) is a rare…

Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olives. …

Opsoclonus myoclonus is a rare neurological disorder characterized by an unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other…

Authors: Douglas Nordli, MD, Mayo Clinic Florida/Nemours Jacksonville; Alison L. Christy, MD, PhD , Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon Reviewed: October 2021 SUMMARY…

Orthostatic hypotension is a sudden fall in blood pressure that occurs when a person assumes a standing position. It is due to a lesion of…

Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a “neoplasm.”…

Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other…

Parkinson’s disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The…

Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur…

Paroxysmal hemicrania is a rare form of headache that usually begins in adulthood. Patients experience severe throbbing, claw-like, or boring pain usually on one side…

Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy),…

Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one…

Perinatal Stroke

Author: Adam Kirton, MD, University of Calgary/Alberta Children’s Hospital Reviewed: April 2021  SUMMARY Sometimes, blood vessels in the brain get blocked or broken. Stroke is the…

Peripheral neuropathy refers to the many conditions that involve damage to the peripheral nervous system, which sends signals between the brain and spinal cord and…

Periventricular Leukomalacia

Authors: Jaclyn Tencer, MD; Sonika Agarwal, MBBS, MD Children’s Hospital of Philadelphia   Reviewed: April 2021  SUMMARY Periventricular Leukomalacia (PVL) is a brain abnormality that occurs following an injury to a specific region of the…

The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills.…

Phelan-McDermid Syndrome

Authors: Katy Phelan, PhD, FACMG, Florida Cancer Specialist & Research Institute, Fort Myers, Florida  Kate Still, PhD, Phelan-McDermid Syndrome Foundation Scientific Director Reviewed: August 2022…

Phenylketonuria (PKU)

Author: Jennifer M. Kwon, MD, MPH University of Wisconsin School of Medicine and Public Health American Family Children’s Hospital—Madison, WI Reviewed: June 2022 SUMMARY Phenylketonuria…

The term “pinched nerve” is a colloquial term and not a true medical term.  It is used to describe one type of damage or injury…

Piriformis syndrome is a rare neuromuscular disorder that occurs when the piriformis muscle compresses or irritates the sciatic nerve-the largest nerve in the body. The…

The pituitary is a small, bean-sized gland that is below the hypothalamus, a structure at the base of the brain, by a thread-like stalk that…

Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. …

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.  It…

Porencephaly/Cystic Encephalomalacia

Author: Jaclyn Tencer, MD; Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia  Reviewed: April 2021  SUMMARY In porencephaly (or cystic encephalomalacia), a fluid-filled cyst develops in brain tissue. The fluid consists…

Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized…

Postural Orthostatic Tachycardia Syndrome (POTS)

Author: Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon Reviewed: October 2021 SUMMARY Postural orthostatic tachycardia syndrome…

Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes a condition…

Prader-Willi Syndrome

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine  Alison L. Christy, MD, PhD, Providence Pediatric Neurology at St. Vincent Medical Center—Portland, Oregon  Reviewed: August 2022 SUMMARY Prader-Willi…

Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known…

Progressive multifocal leukoencephalopathy (PML) is a disease of the white matter of the brain, caused by a virus infection that targets cells that make myelin–the…

Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye…

Prosopagnosia is a neurological disorder characterized by the inability to recognize faces.  Prosopagnosia is also known as face blindness or facial agnosia.  The term prosopagnosia…

Pseudotumor cerebri literally means “false brain tumor.” It is likely due to high pressure within the skull caused by the buildup or poor absorption of…

Rasmussen Encephalitis

Author: Rachit Patil, MD Brown University, Providence, Rhode Island  Reviewed: May 2022 SUMMARY Rasmussen encephalitis (RE) is an inflammation of one half of the brain.…

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).  Due to a genetic…

Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities.…

Restless legs syndrome (RLS) is characterized by unpleasant sensations in the legs and an irresistible urge to move them. Individuals affected with the disorder often…

Rett Syndrome

Authors: Mekka Garcia, MD, NYU Grossman School of Medicine; Alison L. Christy, MD, PhD , Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon   Reviewed: July 2021  SUMMARY…

Reye’s syndrome (RS) is primarily a children’s disease, although it can occur at any age. It affects all organs of the body but is most…

Ring Chromosome 14 Syndrome

Author: Rana R. Said, MD, FAAN University of Texas Southwestern Medical Center, Children’s Health Dallas  Reviewed: November 2021  SUMMARY Ring chromosome 14 syndrome, or r(14), is a rare genetic disorder. Only about 80 cases have been described…

Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord.  It is caused by a…

Schilder’s disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder’s disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may…

Schizencephaly

Author: Alison L. Christy, MD, PhD     Providence Pediatric Neurology at St. Vincent Medical Center —Portland, Oregon  Reviewed: July 2022 SUMMARY Schizencephaly is a problem with the early formation…

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum…

Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken.  A baby has weak neck muscles…

Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox — the…

Sjögren’s syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren’s syndrome is also associated…

Sleep apnea is a common sleep disorder characterized by brief interruptions of breathing during sleep.  These episodes usually last 10 seconds or more and occur…

Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.  It is characterized by excessive physical…

Spasticity

Authors: Margaret Means, MD; Sonika Agarwal, MBBS, MD   Children’s Hospital of Philadelphia  Reviewed: September 2021  SUMMARY Spasticity is a term used to describe a muscle and joint condition in children. In this…

Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the…

Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening…

A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment…

Spinal Muscular Atrophy

Authors: Crystal Jing Jing Yeo, MD, PhD, MRCP(UK) School of Medicine, Medical Sciences and Nutrition, University of Aberdeen; LKC School of Medicine-Imperial College London and…

Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease.  SPS is characterized by fluctuating muscle rigidity in the trunk and limbs…

Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These…

Sturge-Weber Syndrome

Author: Dave Shahani, MD Cook Children’s Medical Center, Fort Worth, TX   Reviewed: March 2022  SUMMARY Sturge-Weber syndrome (SWS) is a rare genetic disorder related to…

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow,…

SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The…

Having trouble swallowing (dysphagia) is a symptom that accompanies a number of neurological disorders. The problem can occur at any stage of the normal swallowing…

Sydenham chorea (SC) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever.  SC is characterized by…

Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope…

SYNGAP1-Related Disorder

Authors:  Kimberly Wiltrout, MD; Annapurna Poduri, MD, MPH  Boston Children’s Hospital and Harvard Medical School  Reviewed: May 2022 SUMMARY SYNGAP1-related disorder is a genetic disorder that…

Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time,…

Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in…

Tardive dyskinesia is a neurological syndrome caused by the long-term use of neuroleptic drugs. Neuroleptic drugs are generally prescribed for psychiatric disorders, as well as…

Tarlov cysts are sacs filled with cerebrospinal fluid that most often affect nerve roots in the sacrum, the group of bones at the base of…

Tay-Sachs Disease

Authors: Michael Cole, MD; Sreenath Thati Ganganna, MBBS, MD  University of Iowa, Stead Family Children’s Hospital, Iowa City, IA    Reviewed: July 2022 SUMMARY Tay-Sachs disease…

Tay-Sachs disease is an inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and…

Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column.  Attachments…

TOS is an umbrella term that encompasses three related syndromes that involve compression of the nerves, arteries, and veins in the lower neck and upper…

Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves’ disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness,…

Todd’s paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The…

Tourette Syndrome

Author: Howard S. Schub, MD, retired   Reviewed: May 2021  SUMMARY Tourette syndrome (TS) is a neuropsychiatric disorder that:  Causes motor and vocal tics  Waxes and wanes over time  The…

A transient ischemic attack (TIA) is a transient stroke that lasts only a few minutes. It occurs when the blood supply to part of the…

Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain…

Transverse Myelitis

Author: Alison L. Christy, MD, PhD   Providence Pediatric Neurology at St. Vincent Medical Center - Portland, Oregon  Reviewed: July 2021  SUMMARY Transverse myelitis (TM) is an inflammatory disease of the spinal cord. It…

Traumatic Brain Injury

Author: Sahar M. Hassanein, MD Ain Shams University in Cairo, Egypt  Reviewed: March 2022 SUMMARY Traumatic brain injury (TBI) is brain damage that comes from…

Tremor is an unintentional, rhythmic, muscle movement involving to-and-fro movements of one or more parts of the body. Most tremors occur in the hands, although…

Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain. The pain seldom…

For several decades the term “tropical spastic paraparesis” (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects…

Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount…

Tuberous Sclerosis Complex

Authors: Mary Jeno, MD; Sreenath Thati Ganganna, MD, MBBS University of Iowa, Stead Family Children’s Hospital, Iowa City, IA   Reviewed: July 2021  SUMMARY Tuberous sclerosis complex (TSC) is a rare genetic disorder in which noncancerous tumors grow…

Undiagnosed Disorder

Reviewed: November 2022 SUMMARY Diagnosing a child’s condition can be difficult. Many questions are raised that can’t always be answered.   Some neurologic disorders can be…

Vasculitis is inflammation of blood vessels, which includes the veins, arteries, and capillaries. It occurs when the immune system mistakenly attacks a blood vessel. Vasculitis can also…

Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas — benign…

Wallenberg’s syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties…

Wernicke’s encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting,…

Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following…

Whipple’s disease is a multi-system infectious bacterial disease that interferes with the body’s ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder…

Williams Syndrome

Authors: Praveen Kumar Ramani, MBBS, University of Arkansas/Arkansas Children’s Hospital  Sonika Agarwal, MBBS, MD, Children’s Hospital of Philadelphia   Reviewed: September 2022 SUMMARY Williams syndrome is…

Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body. The buildup of copper…

Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one…

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