Friedreich’s Ataxia ResourcesFriedreich’s Ataxia

Friedrich’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).

A person with FA

Wheelchair

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

Hospital bed

May be completely incapacitated in later stages of the disease

Heart beat

May have a shortened life span

Mortality in FA is most commonly due to cardiac complications
59% of FA deaths are from cardiac dysfunction

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

The most common manifestations of FA are progressive neurological symptoms

Fa balance

LOSS of balance and coordination

Fa sensation

LOSS of sensation in the arms and legs

Fa vision

LOSS of vision and hearing

FA is a multisystem disease

Cardiac

Cardiac

Hypertrophic and dilated cardiomyopathy, arrhythmia, and mortality

Skeletal

Skeletal abnormalities

Scoliosis and pes cavus

Hearing

Hearing loss

Auditory neuropathy/dyssychrony and vestibular dysfunction

Endocrine

Endocrine

Diabetes, impaired fasting glucose, and impaired glucose tolerance

Vision

Vision

Nystagmus and oculomotor disturbances

Fatigue

Fatigue

Nearly all patients experience significant fatigue that impacts quality of life