Preferred Name |
Duchenne muscular dystrophy |
|
Synonyms |
Becker's muscular dystrophy |
|
Definitions |
X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. |
|
ID |
http://purl.bioontology.org/ontology/CSP/5006-0010 |
|
altLabel |
Becker's muscular dystrophy |
|
cui |
C0013264 C0917713 |
|
definition |
X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. |
|
DID |
5006-0010 |
|
Inverse of RB | ||
notation |
5006-0010 |
|
prefLabel |
Duchenne muscular dystrophy |
|
tui |
T047 |
|
subClassOf |