Duchenne muscular dystrophy

Term ID

DOID:11723

Synonyms

• Muscular dystrophy, Duchenne

Definition

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. (3)

References

• GARD:6291
• MESH:D020388
• NCI:C75482
• OMIM:310200
• SNOMEDCT_US_2023_03_01:155095006
• UMLS_CUI:C0013264

Ontology

Human Disease   ( DOID:11723 )