Duchenne muscular dystrophy

Duchenne muscular dystrophy is an inherited disorder, usually caused by mutations in the DMD gene, that leads to progressive muscle degeneration and weakness. It predominantly affects boys and often involves the heart and breathing muscles.

DMD gene: The X-chromosomal gene that encodes dystrophin, a structural protein found chiefly in muscle and brain tissue. Most cases arise from changes in this gene that disrupt dystrophin production.
X-linked recessive inheritance: X-linked recessive inheritance occurs when a disease-causing variant on the X chromosome affects people with one X chromosome most often. The DMD gene's location on the X chromosome helps explain why the disorder predominantly affects boys.
Corticosteroid: Corticosteroids are anti-inflammatory medicines that alter immune activity and many other physiological processes. Prednisone and deflazacort can slow loss of muscle strength and mobility in Duchenne.
Guillaume-Benjamin-Amand Duchenne: Guillaume-Benjamin-Amand Duchenne was a nineteenth-century French neurologist who used electrical stimulation and tissue sampling to study muscle disease. His name became attached to the muscular dystrophy distinguished by its early onset and severe progression.
Muscle fiber: A muscle fiber is a single elongated muscle cell specialized to contract and generate force. Without dystrophin, repeated contractions make these cells vulnerable to membrane damage and degeneration.
Creatine kinase: Creatine kinase is an enzyme found in muscle and other tissues; blood levels rise when muscle cells are damaged. Markedly elevated blood levels often prompt evaluation for Duchenne muscular dystrophy.
Exon skipping: Exon skipping is a molecular therapy strategy that alters RNA splicing to omit selected gene segments from a messenger RNA. Some Duchenne treatments target particular DMD mutations to restore the reading frame and produce shorter dystrophin.
Edward Meryon: Edward Meryon was a British physician who described a familial childhood muscle disorder in the nineteenth century. His early account of affected boys preceded Duchenne's more widely recognized description.
Muscular dystrophy: Muscular dystrophy is a group of inherited disorders marked by progressive muscle weakness and degeneration. Duchenne is one severe, early-onset form within this broader disease group.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with inherited conditions. Testing can confirm a DMD mutation and identify its specific type.

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