Preferred Label : Muscular dystrophy, becker type;
Symbol : BMD;
CISMeF acronym : BMD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Becker muscular dystrophy; Muscular dystrophy, pseudohypertrophic progressive, becker type;
Description : The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular
dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal,
but the course is more benign, with age of onset around 12 years; some patients have
no symptoms until much later in life. Loss of ambulation also varies from adolescence
onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne
muscular dystrophy, a degree of mental impairment is present (Emery, 2002). As in
DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness,
and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness
is often asymmetric; it can develop in childhood or not become evident until adult
life, and can be slowly progressive or remain static. Because weakness is essentially
proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic
counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy
in the absence of apparent weakness (Grain et al., 2001).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the dystrophin gene (DMD, 300377.0002);
Laboratory abnormalities : High serum creatine kinase; Abnormal electrocardiogram; Abnormal dystrophin on muscle biopsy;
Prefixed ID : #300376;
Origin ID : 300376;
UMLS CUI : C0917713;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
