pediatrics
Introduction to Inherited Muscular Disorders
Congenital muscular dystrophy
Congenital muscular dystrophy describes a rare group of diseases with symptoms evident at birth or shortly thereafter. The diseases are genetically recessive and manifest with diminished muscle tone, sometimes called "floppy baby." Diagnosis is based on clinical presentation, muscle biopsy, and blood tests to evaluate muscle proteins and genetic abnormalities. No cure exists; treatment is focused on preserving and optimizing function. Congenital muscular dystrophy is not a single disorder but instead refers to muscular dystrophy evident at birth or in infancy, occurring from any of several rare forms of muscular dystrophy. All such dystrophies are genetically recessive and result from mutations in a variety of different genes, including those that encode for structural proteins of the basal membrane or the extracellular matrix of skeletal muscle fibers. The diagnosis of congenital muscular dystrophy is suspected in any floppy neonate but must be distinguished from a Congenital Myopathies by muscle biopsy. Blood tests to evaluate muscle proteins, ultrasonography and magnetic resonance imaging of muscle, and genetic testing when available, are typically done to arrive at an accurate diagnosis. No specific treatment exists for congenital muscular dystrophies. Orthopedic, cardiac, respiratory, nutritional, and social issues may be addressed by appropriate experts as the needs arise, and supportive care, including physical therapy helps preserve function. 