Preferred Label : Muscular dystrophy, duchenne type;
Symbol : DMD;
CISMeF acronym : DMD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Duchenne muscular dystrophy; Muscular dystrophy, pseudohypertrophic progressive, duchenne type;
Description : Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular
dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376). Mapping and
molecular genetic studies indicate that both are the result of mutations in the huge
gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the
mutations in both forms are deletions of one or many exons in the dystrophin gene.
Although there is no clear correlation found between the extent of the deletion and
the severity of the disorder, DMD deletions usually result in frameshift. Boland et
al. (1996) studied a retrospective cohort of 33 male patients born between 1953 and
1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median
age of 10 years; cardiac muscle failure developed in 15% of patients with a median
age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred
in 21% and 6% of the patients, respectively, at a median age of 15 years. In this
cohort, death occurred at a median age of 17 years. The authors commented that the
diagnosis of DMD is being made at an earlier age but survival has not changed.;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the dystrophin gene (DMD, 300377.0001);
Laboratory abnormalities : High serum creatine kinase; Abnormal electrocardiogram; Absent dystrophin on muscle biopsy;
Prefixed ID : #310200;
Origin ID : 310200;
UMLS CUI : C0013264;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
