What are the Signs and Symptoms of Friedreich’s Ataxia?
The Signs and Symptoms of Friedrecih’s Ataxia includes the follwing:
Muscle weakness in the arms and legs
Loss of coordination
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 (atrial fibrillation, which leads to 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.
The following physical signs may be detected on physical examination:
Cerebellar: Nystagmus, fast saccadic eye movements, truncal ataxia, dysarthria, dysmetria.
Pyramidal: absent deep tendon reflexes, 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.