Hereditary Neuromuscular Disorders

Hereditary Neuromuscular Disorders are a group of inherited conditions that, as their name suggests, affect skeletal muscles. These disorders are classified in one of five categories: muscular dystrophies, congenital myopathies, ion channel diseases, mitochondrial myopathies, and metabolic myopathies. Some prominent examples of these disorders include Duchenne’s muscular dystrophy and Becker’s muscular dystrophy.

For optimal comprehension, the student must be familiarized with the physiology of the neuromuscular junction and of muscle contraction, patterns of inheritance, and neurological disorders of the neuromuscular junction and peripheral nerve.

The clinician must be aware of clinical presentation of these conditions, especially symptom distribution (e.g., proximal vs. distal involvement), in order to reduce the list of differentials, without mentioning that these disorders debut in very young children and can produce poorer outcomes if not detected promptly.