Sensing a Breakthrough
Unique International Collaboration Advances Understanding and Treatment of a Muscular DystrophyBy Michael Wentzel
But FSHD, which was first described by French physicians in 1884, is an atypical genetic disease. While the discovery of the genetic defect on chromosome 4 opened new areas of research, it also added to the disease mysteries. This genetic defect involves the loss of a critical number of repetitive pieces of DNA, a sequence called D4Z4. At least 11 copies of the sequence are required for normal health. Those who have fewer than 11 get the disease.