Muscular dystrophy
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. [ Neuromics:vstraub HPO:probinson ]
Term info
- MSH:D009136
- UMLS:C0026850
- UMLS:C1864711
- SNOMEDCT_US:73297009
- SNOMEDCT_US:193225000
Muscular dystrophy can be demonstrated by muscle biopsy.
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
HP:0003806, HP:0003544
Muscle biopsy shows dystrophic changes
HP:0003560