Orphan Insights: Friedreich's Ataxia: Fragile X Syndrome: Niemann-Pick Disease Type C (NPC)
Friedreich's Ataxia a rare inherited autosomal recessive disorder that causes nervous system damage and movement problems. It is caused by a mutation in a gene labeled frataxin (FXN). Over time this deficiency causes the aforementioned damage, as well as frequent fatigue due to effects on cellular metabolism. Friedreich's ataxia is the most common of the autosomal recessive ataxias.
View full press release