FRIEDREICH’S ATAXIA RESOURCES

Friedreich’s Ataxia

Friedreich’s ataxia (FA) is a rare, inherited multisystem disease with prominent CNS and cardiac features and high unmet medical need. FA affects the nerves and spinal cord, causing loss of control of body movements (ataxia).
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A person with FA

Will usually need a wheelchair within 10 to 20 years of symptom onset

May be completely incapacitated in later stages of the disease

May have a shortened life span

MORTALITY IN FA IS MOST COMMONLY DUE TO CARDIAC COMPLICATIONS
of FA deaths are from cardiac dysfunction
0 %

Only symptomatic treatment options are available, with none addressing the underlying cause of the disease—the defective frataxin gene

FA IS THE MOST COMMON HEREDITARY ATAXIA
  • Males and females are equally affected
  • One in every 40,000 to 50,000 people have FA
  • Approximately 9,000 patients in the United States and ~26,000 patients in the European Union are affected

A person with FA The most common manifestations of FA are progressive neurological symptoms

LOSS of balance and coordination

LOSS of sensation in the arms and legs

LOSS of vision and hearing

FA is a multisystem disease

Cardiac

Hypertrophic and dilated cardiomyopathy, arrhythmia, and mortality

Skeletal abnormalities

Scoliosis and pes cavus

Hearing loss

Auditory neuropathy/dyssychrony and vestibular dysfunction

Endocrine

Diabetes, impaired fasting glucose, and impaired glucose tolerance

Vision

Nystagmus and oculomotor disturbances

Fatigue

Nearly all patients experience significant fatigue that impacts quality of life

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