Friedreich’s ataxia
Friedreich’s ataxia is also called FRDA and is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination(ataxia) and heart enlargement.
- FRDA was named after the German doctor, Nikolaus Friedreich, who first described the disease in 1863. FRDA is generally diagnosed in childhood and affects both males and females.
- FRDA is caused by autosomal recessive disease caused by a mutation of a gene called frataxin,which is located on chromosome 9.
- This mutation means that there are many extra copies of DNA segment, the trinucleotide GAA. A normal individual has 8 to 30 copies of this trinucleotide,while FRDA patients have as many as 1000.The larger the number of GAA copies, the earlier the onset of the disease and the quicker the decline of the patient.
- 2A study of 82 fatal cases of Friedreich's ataxia showed that over half the patients died of heart failure while nearly three-quarters had evidence of cardiac dysfunction during life. A high incidence of diabetes mellitus (23%) was another finding, and four patients developed diabetic ketosis terminally.