Molecular Analysis of Patients With Neuromuscular Disease

We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.

The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.

Inclusion criteria

• 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

Exclusion criteria

• 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