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Duchenne muscular dystrophy

Disease Summary
Associated Targets (609)
Tbio

453

Tchem

86

Tdark

42

Tclin

28


GARD Rare
Mondo Description Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Uniprot Description Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
Disease Ontology Description A muscular dystrophy that has material basis in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Mondo Term and Equivalent IDs
MONDO:0010679:  Duchenne muscular dystrophy
GARD:0006291: 
MESH:D020388: 
NCIT:C75482: 
Orphanet:98896: 
SCTID:76670001: 
UMLS:C0013264: