Friedreichs Ataxia

Information and facts about Eponymous diseases.

Friedreich's ataxia is rare, although it is one of the most common forms of autosomal recessive ataxia.

A recessive disorder caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9. It is named after Nikolaus Friedreich, a German doctor who described the disease in 1863.

Delatycki et al. (2000) provided an overview of the clinical features, pathology, molecular genetics, and possible therapeutic options in Friedreich ataxia.

Symptoms

Symptoms begin sometime between the age of 5 to 15 years. The symptoms can include any combination, but not necessarily all of:

Muscle weakness in the arms and legs
Loss of coordination
Vision impairment
Hearing loss
Slurred speech
Curvature of the spine (scoliosis)
Carbohydrate intolerance
Extreme heart conditions (eg, Atrial fibrillation, and resultant tachycardia (fast heart rate) and cardiomyopathy (enlargement of the heart))
These symptoms are slow and progressive. Long-term observation shows that many patient's reach a plateau in symptoms in the patient's early adulthood. Because of many of these symptoms, a person suffering from Friedrich's Alaxia may require some surgical interventions (mainly for the spine and heart). As progression occurs, assistive devices such as a cane or walker or a wheelchair are required for mobility (independence).

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