The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.
having a clinical and/or pathological diagnosis of a muscular dystrophy
being the first degree relative of someone with such a diagnosis
having had a muscle biopsy if diagnosed with a neuromuscular disease
willingness to provide a skin biopsy for research only
not having a neuromuscular diagnosis in you or a family member
not wishing to participate
being incapable of giving consent and not having a legal guardian willing or able to do so
Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.
Family-based
Prospective
Not listed
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Boston Children's Hospital
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
