A ten year old boy is seen by a neurologist because of progressive difficulty walking & diminution of vision. The patients has a right foot deformity (pes cavus). He presented to a cardiologist with hypertrophic cardiomyopathy. He has an uncle that died of cardiac complications. He also presents with diabetes mellitus, ataxia, nystagmus, dysarthia, areflexia, positive Babinski sign, & decreasedsensations in the lower limbs.
- Friedeich's Ataxia.
- Autosomal-recessive inheritance.
- Three tracts degenerate: pyramidal, dorsal, & spinocerebellar.
- Cardimyopathy, skeletal abnormalities, & optic atrophy.
- Increased incidence of diabetes mellitus.
- Ataxia with progressive involvement of all the extremities.