Friedreich ataxia

Friedreich ataxia is an autosomal recessive ataxia resulting from a mutation of a gene locus on chromosome 9.Cardinal features include progressive limb and gait ataxia, dysarthria, loss of joint position and vibration senses, absent tendon reflexes in the legs, and extensor plantar responses.dying back phenomena of axons, beginning in the periphery with ultimate loss of neurons and a secondary gliosis. The primary sites of these changes are the spinal cord and spinal roots. This results in loss of large myelinated axons in peripheral nerves, which increases with age and disease duration.

The cardinal features of FA are:

Progressive limb and gait ataxia develops before the age of 30 years.

Lower extremity tendon reflexes are absent.

Evidence of axonal sensory neuropathy is noted.

Dysarthria, areflexia, motor weakness of the lower extremities, extensor plantar responses, and distal loss of joint position and vibration senses are not found in all patients within the first 5 years, but are eventually universal.

Foot deformity, scoliosis

Clinical evidence of ventricular hypertrophy, systolic ejection murmurs, and third or fourth heart sounds may be noted.

Rx:

5-hydroxytryptophan

Coenzyme Q

Idebenone