Genetic Testing in Neuromuscular Disease

Genetic testing provides critical information for the diagnosis, prognosis, and medical management of neuromuscular diseases. Clinicians must be aware of the appropriate use, methodologies, limitations, and utility of the testing options. Recognizing common mutations and patterns of inheritance in specific diseases can help guide the most appropriate test. Newer sequencing methodologies enable clinicians to query large numbers of genes in patients with atypical clinical presentations, but interpretation of the DNA variants identified by these methods remains a challenge.