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CMD is a genetic disorder. It occurs when a faulty gene results in abnormal muscle function. The gene can be passed from parent to child, even if the parent does not have symptoms. Or, the child can be the first in their family to have muscular dystrophy.
Children with suspected congenital muscular dystrophy often will undergo genetic testing to confirm a diagnosis or pinpoint the specific type of CMD involved. Identifying the specific gene abnormality can help guide treatment more precisely. Parents may also undergo genetic testing to determine if they carry an abnormal gene for congenital muscular dystrophy.
The Stanford Neuromuscular Program works closely with the Clinical Genomics Service to test for gene abnormalities when congenital muscular dystrophy is suspected. We combine an in-house laboratory with expert clinical interpretation of genetic testing results to provide doctors and patients with more personalized care for inherited disorders.