Details for the study
Population
Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group
of diseases.
Brief Title
Molecular Analysis of Patients With Neuromuscular Disease
Official Title
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
Brief Summary
The purpose of this study is to identify genes and proteins responsible for neuromuscular
<br /> disorders by studying genetic material from individuals with neuromuscular disease, as well
<br /> as their family members. We are interested in recruiting many types of neuromuscular disease
<br /> including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and
<br /> limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular
<br /> dystrophy with no causative gene implicated in their disease. Using molecular genetics to
<br /> unravel the biochemical basis of these neuromuscular disorders will lead to more accurate
<br /> diagnosis/prognosis of these disorders which will lead to potential therapies.
Detailed Description
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.
Study Criteria
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:
1. having a clinical and/or pathological diagnosis of a muscular dystrophy
2. being the first degree relative of someone with such a diagnosis
3. having had a muscle biopsy if diagnosed with a neuromuscular disease
4. willingness to provide a skin biopsy for research only
Exclusion Criteria:
1. not having such a diagnosis and not being related to such an individual
2. not wishing to participate
3. being incapable of giving consent and not having a legal guardian willing or able to
do so