Molecular Analysis of Patients With Neuromuscular Disease

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members

Conditions
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Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 1 Week
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Neuromuscular Disease, Muscle weakness, Muscle atrophy