Clinical Trial: Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational




Official Title: Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Brief 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 either non-invasive (saliva and buccal swabs) or minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA 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.