User:Mr. Ibrahem/Friedreich's ataxia

Friedreich's ataxia (FRDA or FA) is a genetic disease that results in difficulty walking, loss of sensation, and impaired speech that worsens over time. Mental functions are otherwise normal. Symptoms generally start between 5 and 15 years of age. As the disease progresses, many develop hypertrophic cardiomyopathy and lose their sight and hearing. Other complications may include scoliosis and diabetes.

The condition is inherited from a persons parents in an autosomal-recessive manner. It occurs due to a mutations in the FXN gene on chromosome 9, which results in decreased production of a protein called frataxin. This results in damage to highly active cells including neurons, heart cells, and pancreatic beta cells. Diagnosis is often based on symptoms and confirmed by genetic testing.

There is no specific treatment, though symptoms and complications may be managed. This may include physiotherapy, mobility aids such as wheelchairs, and hearing aids. FRDA shortens life expectancy to around 37 years, though some live into their 60s or older.

FRDA affects one in 50,000 people in the United States and is the most common inherited ataxia. Rates are highest in Europe, the Middle East, South Asia, and North Africa. The condition is named after German physician Nikolaus Friedreich, who first described it in 1863. Research is ongoing with respect to a number of potential treatments.