Friedreich's ataxia

Friedreich's ataxia is a rare autosomal 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.

Symptoms

Symptoms begin sometime between the age of 5 to 15 years. The symptoms include:

• 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 (like enlarged heart)

These symptoms are slow and progressive, usually ending by the patient's early adulthood. Because of many of these symptoms, a person suffering from Friedrich's Alaxia will require some surgery, mainly for the spine and heart, and may also need walking assistance such as a cane or walker or even a wheelchair.

External links

• NBCI Genes and Disease: Friedreich's ataxia
• GeneReviews: Friedreich ataxia
• FARA What is Friedreich's Ataxia?