Congenital myopathy

Congenital myopathies are genetic muscle disorders that begin at birth or early life, usually causing weakness through structural or contractile defects in muscle fibers.

Skeletal muscle: Striated muscle attached to bones that produces voluntary movement and helps maintain posture. Congenital myopathies primarily disrupt this tissue.
Nemaline myopathy: A congenital myopathy characterized by nemaline rods in muscle fibers and variable weakness. It is a major subtype defined by distinctive rod-shaped muscle inclusions.
Next-generation sequencing: DNA sequencing technologies that read many genomic regions in parallel. Broad genetic testing can identify causes among many overlapping myopathy genes.
Spinal muscular atrophy: A genetic motor neuron disorder that causes progressive muscle weakness and atrophy. It can resemble congenital myopathy but primarily damages motor neurons rather than muscle fibers.
Sarcomere: The repeating contractile unit of striated muscle, built from interacting thick and thin filaments. Several congenital myopathies alter proteins that organize this unit.
Central core disease: A congenital myopathy marked by core-like regions lacking normal oxidative enzyme activity in muscle fibers. Its fiber cores are a classic structural lesion in congenital muscle disease.
Electromyography: A diagnostic test that records the electrical activity of muscle and associated nerves. It helps distinguish a muscle process from disorders primarily affecting nerves.
Congenital muscular dystrophy: A group of inherited muscle diseases with early-onset weakness and muscle-fiber degeneration and regeneration. It also begins early, but dystrophic tissue changes distinguish it from typical myopathy.
Actin: A protein that forms thin filaments in muscle and provides structural support in many cells. ACTA1 variants can disrupt thin filaments and cause congenital weakness.
Centronuclear myopathy: A group of congenital myopathies in which muscle fibers contain centrally located nuclei. The misplaced nuclei reveal a characteristic defect in muscle development or maintenance.

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