Friedreich's Ataxia - Signs and Symptoms

Signs and Symptoms

Symptoms typically begin sometime between the ages of 5 to 15 years, but in Late Onset FA may occur in the 20s or 30s. Symptoms include any combination, but not necessarily all, of the following:

• Muscle weakness in the arms and legs
• Loss of coordination
• Vision impairment
• Hearing impairment
• Slurred speech
• Curvature of the spine (scoliosis)
• High plantar arches (pes cavus deformity of the foot)
• Diabetes (about 20% of people with Friedreich's ataxia develop carbohydrate intolerance and 10% develop diabetes mellitus)
• Heart disorders (e.g., atrial fibrillation, and resultant tachycardia (fast heart rate) and hypertrophic cardiomyopathy )

It presents before 25 years of age with progressive staggering or stumbling gait and frequent falling. Lower extremities are more severely involved. The symptoms are slow and progressive. Long-term observation shows that many patients reach a plateau in symptoms in the patient's early adulthood. On average, after 10–15 years with the disease, patients are usually wheelchair bound and require assistance with all activities of daily living.

The following physical signs may be detected on physical examination:

• Cerebellar: Nystagmus, fast saccadic eye movements, truncal ataxia, dysarthria, dysmetria.
• Lower motor neuron lesion: absent deep tendon reflexes.
• Pyramidal: extensor plantar responses, and distal weakness are commonly found.
• Dorsal column: Loss of vibratory and proprioceptive sensation occurs.
• Cardiac involvement occurs in 91% of patients, including cardiomegaly (up to dilated cardiomyopathy), symmetrical hypertrophy, heart murmurs, and conduction defects. Median age of death is 35 years, while females have better prognosis with a 20-year survival of 100% as compared to 63% in men.

20% of cases are found in association with diabetes mellitus.