Dystrophin is a vital structural component of the skeletal muscle fibre membrane and its deficiency renders the plasma membrane incompetent, leading to fibre breakdown as described above. The main symptom of muscular dystrophy is progressively worsening weakness of the affected muscle groups. In Duchenne's the serum creatine kinase is raised at least 40 fold. The disease generally presents around the age of 4 years, with increasingly clumsy walking progressing to difficulty in standing up. Few children with Duchenne's survive beyond their teenage years and there is currently no specific treatment.
Genetic counselling has an important role to play.
Another form of X-linked muscular dystrophy, Becker's disease, is much milder and relatively benign. A muscular dystrophy programme is running on the Hammersmith site in collaboration with the MRC Clinical Sciences Centre. Clinically, a large variety of neuromuscular disorders are seen in an internationally acclaimed service originally established by Professor V Dubowitz. The ultimate aim of this programme is to relieve muscular dystrophies with gene therapy. The clinic provides a prenatal diagnostic service where appropriate.