What is it?

Friedreich's Ataxia (FRDA or FA), also known as spinocerebellar degeneration is a rare hereditary condition that results in walking difficulties, a loss of sensation in the arms or legs and impaires speech. It is an autosomal recessive genetic disease, caused by mutations in the FXN gene, which makes the frataxin protein. When less frataxin is produced, there is nerve tissue degeneration that causes ataxia, sensory neuron deficit and loss of myelin sheath. The condition’s symptoms usually start between 5-20 years of age. Many of the affected people develop hypertrophic cardiomyopathy as well. Complications also include scoliosis and diabetes mellitus.

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Additional names

This group contains additional names:
- Neuromuscular scoliosis due to Friedreichs ataxia
- Spinocerebellar ataxia

Signs & symptoms

Friedreich's Ataxia symptoms may include difficulty in walking, vision changes,hearing loss, muscle weakness, leg areflexia, poor coordination, speech problems, involuntary eye movements, foot deformity.Heart abnormalities can cause palpitations, chest pain, dizziness, shortness of breath.


Friedreich's Ataxia diagnosis starts with medical history and a physical examination, including a neurological examination- balance, reflex, sensation, strength. Other tests that help making a diagnosis are electromyogram, nerve conduction studies, electrocardiogram, echocardiogram, and imaging such as CT or an MRI to rule out other conditions. To confirm the diagnosis, a genetic test is conducted.


Friedreich's Ataxia has no cure, but a symptomatic treatment may be given. Physical and speech therapy are important to help these people function. Walking aids are sometimes necessary. For leg or spine problems, surgeries might be suggested. Heart disease or diabetes may be treated with medications.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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