Friedreich Ataxia
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Friedreich Ataxia
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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 with:

  • Balance
  • Sensation
  • Coordination
  • Speech

In some individuals, it also causes problems related to heart function, curvature of the spine, and diabetes.

Most people show their first features of FRDA between the ages of 5 and 20, though it can begin as late as age 65. FRDA is a recessive genetic disease. This means that a person with FRDA must inherit the disease from both parents.

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Disorder Overview

DESCRIPTION

FRDA affects the nervous system. It typically begins with difficulty in coordinating the lower limbs and walking. This worsens slowly. Then, trouble with coordinating and moving the hands begins. Eventually, speech becomes affected. People with FRDA sometimes develop hearing difficulties and vision loss.  

People with FRDA typically begin to use a wheelchair about 10 to 15 years after the disease begins. Other functions (such as speech and hand function) become fully disabled over the course of 30 years. For individuals who develop FRDA later in life, after age 20, the disease worsens at a slower rate. 

FRDA and Heart Disease 

Some people with FRDA develop heart disease and thickening of the heart. In these cases, over time, the heart muscle degenerates. This leads to heart failure. This is more common in those who develop the disease before age 15. In people with FRDA and heart disease, death usually occurs between the ages of 25 and 40. For individuals who develop FRDA later in life, after age 20, heart disease is uncommon. 

Most people with FRDA have curvature of the spine. In patients who develop FRDA before age 10, surgery is frequently necessary. Spine problems can worsen during the teenage years. Surgery can help repair the curvature of the spine.

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SIGNS AND SYMPTOMS

FRDA is usually diagnosed by a pediatric neurologist. Usually, the first sign is a child or teenager who comes to the doctor due to trouble with balance. FRDA is also linked to specific exam findings, such as: 

  • A loss of feeling in the legs 
  • An absence of deep tendon reflexes 
  • A worsening of the ability to walk and stand with the eyes closed 

FRDA has a slow progression in people ages 5 to 20. This helps doctors recognize a set of problems as FRDA. 

Occasionally, FRDA is diagnosed when very young children, those under age 8, have: 

  • Chest pain. This chest pain can reveal significant heart disease, a sign of FRDA.  
  • Curvature of the spine. Spine issues are linked to a loss of deep tendon reflexes. They can indicate FRDA. 

Over time, all of these original symptoms slowly worsen.

CAUSES

FRDA is always hereditary. It is the most common inherited balance disorder in children, so it is often suspected when a child has balance issues. To develop FRDA, a person must have 2 copies of an abnormal FXN gene variant. One copy comes from each parent. In other words, each parent must be a carrier of the abnormal variant. Carriers do not show any symptoms themselves. 

About 1 in every 50,000 persons in the United States has FRDA while 1 in roughly every 100 individuals is a carrier. 

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LABORATORY INVESTIGATIONS

Diagnostic Testing 

Two types of testing are often used to help diagnose FRDA: 

  • Magnetic resonance imaging (MRI). A normal brain MRI scan can point to FRDA. This is because MRIs usually appear normal in FRDA. 
  • Genetic testing. Certain genetic testing can look for FRDA. These tests look for variations in the FXN gene. 

Annual Tests 

Annual tests for those with FRDA can include: 

  • An annual visit to a neurologist to assess new symptoms 
  • Annual electrocardiographs (an electrical recording of the heartbeat) and echocardiographs (a structural image of the heart) to assess changes in the heart 
  • Annual checks for diabetes, using: 
    • Glucose levels 
    • Hemoglobin A1C levels 
  • Annual spine checks during the teenage years 
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TREATMENT AND THERAPIES

Several curative or preventative treatments for FRDA are in clinical trials. However, none are available now. Currently, all treatments are based on symptoms:

Physical therapy.

Can treat difficulty with balance.

Exercise.

Can lessen the general effects of disease.

Occupational therapy and speech therapy.

Can treat worsening symptoms related to life activities and speech.

Pain medications (like gabapentin).

Can treat specific symptoms, such as nerve pain.

Muscle relaxers (like baclofen).

Can treat muscle stiffness late in the disease.

Medications to lower blood pressure and treat cardiac stress.

Can treat symptoms of heart failure, such as shortness of breath and swollen feet.

Physical therapy and back bracing.

Can be used for less severe scoliosis. Surgery is not usually recommended for spine issues.

Medicines, diet, and insulin.

Can treat diabetes.

None of these treatments change the fact that the disease will continue to get worse over time. They only treat the symptoms. 

OUTLOOK

FRDA gets worse over time. Eventually patients become very disabled. However, their ability to think remains normal. For this reason, people with FRDA can live and function independently. They often just need the right help with their motor functions. This may include setting up specific 504 plans in school. Many people with FRDA go to college, have high-level jobs, and start families.

Resources 

Friedreich’s Ataxia Research Alliance

The Friedreich’s Ataxia Research Alliance (FARA) is a national organization dedicated to raising funds for research, promoting public awareness, and bringing together scientists, patients, clinicians, government agencies, pharmaceutical companies and other organizations dedicated to curing FA and related diseases. The Friedreich’s Ataxia Global Patient Registry is the only worldwide registry of Friedreich’s ataxia patients. FARA provides a comprehensive Family Support and Resources section on their website. 

Muscular Dystrophy Association

Families are at the heart of Muscular Dystrophy Association’s mission. A caring and concerned group of families started MDA in 1950, and they continue to relentlessly pursue their promise to free families from the life-threatening effects of muscular dystrophy and muscle-debilitating diseases today. MDA focuses on over 43 neuromuscular diseases in children and adults, including Friedreich Ataxia. 

MDA empowers families with support by providing: A Resource List, Outside Organization Programs & Information, Summer Camp, Community Education, Community Events, and Young Adult Programs. MDA’s research program awards grants to the world’s best scientists 

National Ataxia Foundation

The National Ataxia Foundation’s vision of a world without Ataxia will be accomplished through its primary programs of funding Ataxia research, providing vital programs and services for Ataxia families, and partnering with pharmaceutical companies in the search for treatments and a cure. NAF offers many educational resources for Ataxia, including a comprehensive library of brochures, fact sheets, and books. NAF oversees the Parents of Kids with Ataxia private Facebook group, which currently has over 800 members. 

Publications 

JCN: A look into pediatric movement disorders, namely Friedreich Ataxia.

Podcast from SAGE Neuroscience and Neurology/Journal of Child Neurology (JCN). Author David Lynch, PhD, discusses his article Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. Read Dr. Lynch’s article here.

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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 

ClinicalTrials.gov for Friedreich Ataxia (birth to 17 years).

These are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently. 

ClinicalTrials.gov 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.

Family Stories 

Friedreich’s Ataxia Research Alliance (FARA) has an active Friedreich Ataxia community, also known as the FAmily. You can Meet the Community, which includes Ambassadors, community members, and Meet the Community interviews which are posted every Monday. 

The National Ataxia Foundation (NAF) shares stories of adults and children living with Ataxia on their Member Stories page.

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. 

References

Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY. Friedreich Ataxia: Multidisciplinary Clinical Care. J Multidiscip Healthc. 2021 Jun 28;14:1645-1658. https://doi.com/10.2147/JMDH.S292945. PMID: 34234452; PMCID: PMC8253929. 

Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB; Clinical Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014 Nov 30;9:184. https://doi.com/10.1186/s13023-014-0184-7. PMID: 25928624; PMCID: PMC4280001. 

Thank you to our 2022 Disorder Directory partner Jazz Pharmaceuticals. And to our 2021 partners Acadia, Aeglea, Amicus Therapeutics, bluebird bio, Eisai, Greenwich Biosciences (now Jazz Pharmaceuticals), Liva Nova, Origin, Ovid, PTC Therapeutics and UCB for their support of the Disorder Directory.

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