Hereditary Spastic Paraparesis/Paraplegia
Hereditary Spastic Paraparesis/Paraplegia
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Hereditary Spastic Paraparesis Paraplegia header

AuthorsMichelle R. Christie, MD; Linsley Smith, RNBSN 
Scottish Rite for Children – Dallas, Texas 
Reviewed: April 2021 


Hereditary Spastic Paraparesis/Paraplegia (HSP) causes difficulty walking. In HSP, a person has tight and weak muscles. These tight muscles are also called spastic muscles. This is how the disorder gets its name. 

When learning about HSP you will see the terms “Paraplegia” and “Paraparesis” since there is a wide range of symptoms in patients who have HSP. 

  • Paraplegia means severe weakness in both legs including paralysis 
  • Paraparesis indicates weakness in both legs of lesser severity than paraplegia. 

There are two types of HSP. The first is called uncomplicated, or pure, HSP. The second is called complicated HSP. The uncomplicated form includes tight and weak muscles as well as difficulty with urination. The complicated form has additional symptoms. These can include seizures and intellectual disability.  

Symptoms can start at any time.  

HSP is a genetic disorder. It can be caused by a mutation in any of a large number of genes. 


Disorder Overview


HSP causes the connections between the spine and the brain to develop abnormally. Therefore, messages from the brain become weakened. They cannot tell the body how to move. HSP is a rare disease. It affects only about 0.007% of people worldwide.  

Symptoms of HSP can range from very mild to severe. The amount of muscle weakness a child experiences can vary. Some will have no weakness, or full strength. Others will have severe weakness, or paraplegia. Types of symptoms and their severity can even differ between family members with the same genetic mutation.  

The symptoms of HSP may worsen over time. Individuals with severe symptoms may lose the ability to walk independently.   

HSP is not life threatening.  


Uncomplicated HSP

Uncomplicated types of HSP include the following symptoms: 

  • Leg weakness 
  • Leg tightness 
  • Difficulty with urination 
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Complicated HSP

Complicated types of HSP can have added symptoms. These include: 

  • Seizures 
  • Damage of the nerves in the arms or legs (neuropathy) 
  • Intellectual disability 
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Overall, children diagnosed with HSP may have: 

  • Developmental delays in speaking, sitting, crawling, or walking 
  • Difficulty walking 
  • Leg muscle spasms or pain 
  • Difficulty with urination 
  • Intellectual disability 
  • Damage in the nerves of the arms or legs (neuropathy) 
  • Seizures 


HSP occurs due to gene mutations. Two gene mutations are most often responsible when HSP begins in childhood. These are mutations in the SPG3A and SPG4 genes. However, over 80 genes are known to affect HSP. 

A doctor can provide more specific information about the genetics behind HSP. The doctor may refer a child’s family to a genetic counselor or medical geneticist. Sometimes, the gene mutation causing HSP cannot be identified with today’s genetic knowledge.  

Hereditary Spastic ParaparesisParaplegia


Two kinds of laboratory investigations are most useful in HSP. These are genetic testing and brain and spine imaging. 

Genetic Testing

Genetic testing can confirm if your child has HSP. Genetic testing can be quite expensive. Not all insurance companies cover the expenses. 

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Magnetic Resonance Imaging (MRI)

MRI, or magnetic resonance imaging, can show pictures of the brain and spine. It can rule out other diseases as most patients with HSP have normal MRIs.  

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Treatment plans are guided by the symptoms of HSP. Some children may not require treatment. These children may be monitored by neurologist on a yearly basis depending on their symptoms.  

Possible treatments include: 

  • Medications, to help with muscle tightness and pain 
  • Custom-designed shoe inserts and braces 
  • Physical and occupational therapy, to help with motor skills and function 
  • Speech therapy, to help with cognitive and language skills 
  • Wheelchairs, walkers, and other mobility equipment  
  • Surgery 
  • Individual and family counseling 
  • Accommodations for school 
  • Antiseizure medications if seizures are present 


There is currently no cure for HSP. However, there are many treatments for the symptoms.  

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Spastic Paraplegia Foundation 
The Spastic Paraplegia Foundation, Inc. (SPF) is the only organization in the Americas dedicated to finding a cure for Hereditary Spastic Paraplegia (HSP) and Primary Lateral Sclerosis (PLS). They are a not-for-profit voluntary organization. The primary goal has been to raise money to find a cure. Since their creation in 2002, they have raised and funded over $10 million in research grants. SPF hosts a private Facebook group, Spastic Paraplegia Foundation, Inc #HSPandPLS 

Childhood Stroke 1

HSP Research Foundation (Australia) 

The principal activities of the Foundation are to serve the interests and needs of people with Hereditary Spastic Paraplegias (HSPs) by: 

  • facilitating and funding research to find an effective treatment for the HSPs; and
  • as the hub of the HSP community, creating awareness and providing information, education and support.

The HSP Research Foundation is an incorporated, registered Australian charity that was created in 2005 to find a treatment for Hereditary Spastic Paraplegia (HSP) an inherited, degenerative disease affecting mainly the legs, causing muscle weakness, spasticity and severely impairing walking. 

Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF. 

Research for Hereditary Spastic Paraplegia are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently. is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.  

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits. 

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only.  CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options. 


Hedera P. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.   

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