Muscular dystrophy, becker type

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;

Details

Origin ID

300376;

UMLS CUI

C0917713;

Automatic exact mappings (from CISMeF team)
- Best vitelliform macular dystrophy [ORDO Disease]
- Bone Mineral Density [NCIt concept]
- Bone Mineral Density Test [NCIt concept]
- DMD wt Allele [NCIt concept]
- bestrophin 1 [ORDO Gene]
- bestrophin 1 [HGNC gene]
- dystrophin [ORDO Gene]
- dystrophin [HGNC gene]
Broader ORDO disease(s)
- Duchenne and Becker muscular dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Becker muscular dystrophy [PASCAL descriptor]
- Becker muscular dystrophy [DO Concept]
- Becker muscular dystrophy [Disease (Nov.)]
- Becker muscular dystrophy [ICD-11 Subcategory]
- Becker muscular dystrophy [ORDO Disease]
- Becker muscular dystrophy (disorder) [SNOMED CT concept]
- Becker's Muscular Dystrophy [NCIt concept]
- Becker's muscular dystrophy [MedDRA Preferred Term]
- Benign congenital myopathy (disorder) [SNOMED CT concept]
- becker muscular dystrophy [MeSH concept]
- congenital hereditary muscular dystrophy [SNOMED Notion]
DO Cross reference
- Becker muscular dystrophy [DO Concept]
False automatic mappings
- BMDex Regimen [NCIt concept]
Genes related to phenotype
- Dystrophin [OMIM gene]
HPO term(s)
- Abnormal EKG [HPO term]
- Adult onset [HPO term]
- Arrhythmia [HPO term]
- Calf muscle pseudohypertrophy [HPO term]
- Cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hyporeflexia [HPO term]
- Muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Myalgia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Becker muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Becker muscular dystrophy [ORDO Disease]
- Becker muscular dystrophy [PASCAL descriptor]
- Becker muscular dystrophy [Disease (Nov.)]
- Becker muscular dystrophy (disorder) [SNOMED CT concept]
- Becker's Muscular Dystrophy [NCIt concept]
- Becker's muscular dystrophy [MedDRA Preferred Term]
- becker muscular dystrophy [MeSH concept]

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