Recessively inherited ataxia

FRIEDREICH'S ATAXIA (contd) Clinical features

Sexes are equally affected. Age of onset ranges from 5 to 20 years.

Disturbance of balance is the initial symptom, often associated with the development of scoliosis. A spastic, ataxic gait develops with inco-ordination of the limbs.

Corticospinal tract involvement results in limb weakness with absent abdominal reflexes and extensor plantar responses.

Posterior column involvement results in loss of vibration and proprioception in the extremities. Dorsal root and peripheral nerve involvement results in absent lower limb reflexes.

Involvement of myocardial muscle (cardiomyopathy) is common and results in cardiac failure or dysrhythmias. Musculokeletal abnormalities occur in 80% of cases.

Optic atrophy, deafness and diabetes coexist in many cases.

The disease is progressive. Patients are usually unable to walk within 5 years of onset, and death from cardiac (cardiomyopathy) or pulmonary (kyphoscoliosis) complications occurs within 10-20 years. Mild forms with near-normal life expectancy occur.

Diagnosis

This is made on clinical grounds, usually with a known family history and by excluding other causes of early-onset areflexic ataxia.

Abetalipoproteinaemia (Bassen Kornzweig disease)

• Malabsorption syndrome

• Acanthocytes (thorn-shaped red blood cells)

• Low serum cholesterol, triglycerides and fatty acids.

Hexosaminidase deficiency

• Accumulation of GM2 gangliosides in brain and skin.

Vitamin E deficiency

• Undetectable serum vit E levels.

Xeroderma pigmentosum

• Sensitive to ultraviolet light

• Keratosis and skin cancer.

2. Kyphoscoliosis Excessive

posterior and lateral curvature of the spine.

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