Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophie, typically in boys. It is the most common hereditary neuromuscular disease and does not exhibit a predilection for any race or ethnic group. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness.
Laboratory testing involves creatinine kinase measurements, muscle biopsies, gene testing, and ECG findings for cardiomyopathy. Polymerase chain reactions (PCR) can also be used and detect up to 98% of mutations. Multiplex ligation-dependent probe amplification (MPLA) is also used to identify duplications and deletions. Duplications can lead to in-frame or out of frame transcription products. Fluorescence in situ hybridization (FISH) is used less frequently but is useful to identify small point mutations.
Dystrophin immunocytochemistry can also be sued to detect cases not identifies by PCR.
