Duchenne and Becker muscular dystrophy
Keywords: Duchenne/Becker muscular dystrophy
10 mL blood in EDTA tube.
Multiplex PCR or MLPA analysis to detect a deletion in the dystrophin gene.
Used in conjunction with creatine kinase in the diagnosis of Duchenne/Becker muscular dystrophy and in identifying female carriers.
Prenatal diagnosis for Duchenne muscular dystrophy may be available if the mother has been shown to be a carrier.
Deletions within the dystrophin gene account for approximately 65% of cases of Duchenne/Becker muscular dystrophy in boys.
These deletions can usually be identified in female carriers.
The identification of a deletion in the dystrophin gene in a symptomatic male is diagnostic of Duchenne/Becker muscular dystrophy.
The identification of a deletion in one dystrophin gene in a female is diagnostic of the carrier status.
Molecular genetic studies may be indicated in other family members. The absence of a deletion does not exclude the diagnosis and family studies may clarify a woman’s carrier status.
Laing NG et al. Med J Aust 1991; 154: 14-18.