Muscular dystrophy

Muscular dystrophy is a group of inherited disorders in which genetic defects damage muscle proteins, causing progressive muscle weakness and degeneration.

Dystrophin: A structural protein that connects the muscle-cell cytoskeleton to the surrounding extracellular matrix. Mutations that eliminate or reduce this protein cause several major muscular dystrophies.
Duchenne muscular dystrophy: A severe X-linked muscular dystrophy caused by mutations that usually prevent functional dystrophin production. It is a prominent childhood-onset form with progressive weakness and loss of mobility.
Muscle fiber: An elongated, multinucleated muscle cell specialized for contraction. Muscular dystrophies progressively damage these cells, reducing functional muscle tissue.
Genetic testing: Laboratory analysis that identifies disease-associated changes in DNA. It can confirm a muscular dystrophy subtype and clarify inheritance within a family.
Spinal muscular atrophy: An inherited motor-neuron disorder that causes progressive muscle weakness and atrophy. It can resemble muscular dystrophy clinically, but its primary defect lies in motor neurons.
Sarcolemma: The specialized cell membrane surrounding a muscle fiber. Defective membrane-associated proteins can make muscle fibers vulnerable to contraction-related damage.
Becker muscular dystrophy: An X-linked muscular dystrophy caused by mutations that leave some functional dystrophin. Its generally later onset and slower progression contrast with Duchenne disease.
Muscle regeneration: The repair and replacement of damaged muscle fibers, primarily through satellite cells. Regeneration initially offsets injury but may fail as repeated damage exhausts repair capacity.
Muscle biopsy: The removal and microscopic examination of a small sample of muscle tissue. It can show characteristic protein deficiencies or tissue changes when diagnosis remains uncertain.
Myasthenia gravis: An autoimmune disorder that disrupts communication between nerves and muscles, causing fluctuating weakness. Its weakness arises from impaired neuromuscular transmission rather than inherited muscle-protein defects.

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