Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
Study Details
- All Spinal Muscular Atrophies
- Diagnosis of motor neuron/neuromuscular disease confirmed by neurologist
- Be seen by one of the study investigators
- not seen by one of the study investigators
Protocol Summary
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.
Trial Locations
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User Information
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