Becker muscular dystrophy

Becker muscular dystrophy is an inherited muscle disease caused by variants in the DMD gene that reduce or alter dystrophin. It usually progresses more slowly than Duchenne muscular dystrophy.

Dystrophin: A structural protein that helps stabilize muscle-cell membranes during contraction. Becker muscular dystrophy results when DMD variants leave dystrophin reduced or altered.
Duchenne muscular dystrophy: A severe inherited muscle disease caused by variants in DMD that usually prevent functional dystrophin production. Both disorders involve DMD, but Becker muscular dystrophy usually begins later and progresses more slowly.
Creatine kinase: An enzyme abundant in muscle that enters the blood when muscle cells are damaged. Blood levels are often markedly elevated and can prompt evaluation for Becker muscular dystrophy.
Peter Emil Becker: A German neurologist who characterized the milder muscular dystrophy now bearing his name. His clinical descriptions distinguished Becker muscular dystrophy from Duchenne’s more severe form.
DMD gene: The gene encoding dystrophin, located on the X chromosome. Variants in this gene cause Becker muscular dystrophy.
Limb-girdle muscular dystrophy: A group of inherited disorders causing progressive weakness, especially around the hips and shoulders. Its overlapping weakness can resemble Becker muscular dystrophy, but its causes are genetically diverse.
Genetic testing: Laboratory analysis of DNA to identify variants associated with disease. Testing DMD can confirm the diagnosis and guide family counseling.
Edward M. Kunkel: An American geneticist whose research helped identify and characterize dystrophin. Dystrophin’s discovery connected DMD variants to the muscular dystrophies.
Dystrophin-associated protein complex: A group of proteins linking the muscle-cell cytoskeleton to the extracellular matrix. Dystrophin anchors this complex, whose disruption weakens muscle fibers.
Spinal muscular atrophy: A genetic disease in which motor-neuron loss causes progressive muscle weakness and wasting. It can cause weakness but originates in motor neurons rather than dystrophin-deficient muscle fibers.

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Muscular dystrophyBroader topic: Its generally later onset and slower progression contrast with Duchenne disease.