loading...| Preferred Name |
Muscular Dystrophy, Duchenne |
|
| Synonyms |
Muscular Dystrophy, Becker Type |
|
| Definitions |
An 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 (see MYOCARDIAL DISEASES), 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. (Adams et al., Principles of Neurology, 6th ed, p1415) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020388 |
|
| altLabel |
Muscular Dystrophy, Becker Type Muscular Dystrophy, Duchenne-Becker Childhood Pseudohypertrophic Muscular Dystrophy Becker's Muscular Dystrophy Cardiomyopathy, Dilated, 3B Duchenne-Type Progressive Muscular Dystrophy Muscular Dystrophy, Duchenne and Becker Types Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type Duchenne Becker Muscular Dystrophy Childhood Muscular Dystrophy, Pseudohypertrophic Becker Muscular Dystrophy Pseudohypertrophic Muscular Dystrophy, Childhood Muscular Dystrophy, Becker Muscular Dystrophy, Pseudohypertrophic Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Childhood Muscular Dystrophy Muscular Dystrophy, Childhood, Pseudohypertrophic Duchenne-Becker Muscular Dystrophy Duchenne and Becker Muscular Dystrophy Duchenne Type Progressive Muscular Dystrophy Progressive Muscular Dystrophy, Duchenne Type Muscular Dystrophy, Becker's Cardiomyopathy, Dilated, X-Linked Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Duchenne Muscular Dystrophy Muscular Dystrophy, Duchenne Type Muscular Dystrophy, Pseudohypertrophic, Childhood Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type |
|
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VI |
|
| cui |
C3542021 C0013264 C0917713 |
|
| DC |
1 |
|
| definition |
An 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 (see MYOCARDIAL DISEASES), 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. (Adams et al., Principles of Neurology, 6th ed, p1415) |
|
| DX |
20000101 |
|
| FX |
D016189 |
|
| HN |
2000; use MUSCULAR DYSTROPHIES 1980-1999; for MUSCULAR DYSTROPHY, BECKER & BECKER MUSCULAR DYSTROPHY use MUSCULAR DYSTROPHIES 1991-1999 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2000; see MUSCULAR DYSTROPHIES 1980-1999; for MUSCULAR DYSTROPHY, BECKER & BECKER MUSCULAR DYSTROPHY see MUSCULAR DYSTROPHIES 1991-1999 |
|
| Mapped from | ||
| MDA |
19991108 |
|
| MMR |
20130708 |
|
| MN |
C16.320.322.562 C05.651.534.500.300 C10.668.491.175.500.300 C16.320.577.300 |
|
| notation |
D020388 |
|
| prefLabel |
Muscular Dystrophy, Duchenne |
|
| TERMUI |
T369188 T369189 T818677 T769901 T818679 T843501 T841305 T369185 T818680 T369191 T369193 T369183 T369190 T811506 T369186 T812507 T369184 T811507 T841307 T845656 T027305 T027307 T369192 T369187 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1991) BIOETHICS (1989) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |