muscular dystrophy, duchenne

Preferred Label : muscular dystrophy, duchenne;

MeSH 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);

MeSH synonym : pseudohypertrophic muscular dystrophy; pseudohypertrophic childhood muscular dystrophy; childhood muscular dystrophy, pseudohypertrophic; duchenne type progressive muscular dystrophy; duchenne-type progressive muscular dystrophy; muscular dystrophy, pseudohypertrophic, childhood; muscular dystrophy, childhood, pseudohypertrophic; muscular dystrophy, pseudohypertrophic; childhood pseudohypertrophic muscular dystrophy; progressive muscular dystrophy, duchenne type; pseudohypertrophic muscular dystrophy, childhood; duchenne muscular dystrophy; muscular dystrophy, pseudohypertrophic progressive, duchenne type; cardiomyopathy, dilated, 3b; cardiomyopathy, dilated, X-Linked; muscular dystrophy, duchenne type;

CISMeF synonym : Duchenne; beckers muscular dystrophy; dystrophies, pseudohypertrophic muscular; dystrophy, becker muscular; dystrophy, becker's muscular; dystrophy, duchenne muscular; dystrophy, pseudohypertrophic muscular; muscular dystrophies, pseudohypertrophic; pseudohypertrophic muscular dystrophies;

CISMeF acronym : DMD;

MeSH Hyperonym : duchenne and becker muscular dystrophy; Muscular Dystrophy, Duchenne and Becker Types; Duchenne-Becker Muscular Dystrophy; Duchenne Becker Muscular Dystrophy; Muscular Dystrophy, Duchenne-Becker;

Related MeSH term : becker muscular dystrophy; Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type; Muscular Dystrophy, Becker; Muscular Dystrophy, Becker Type; Becker's Muscular Dystrophy; Muscular Dystrophy, Becker's; Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type;

Wikipedia link : https://en.wikipedia.org/wiki/Duchenne muscular dystrophy;

Details

Origin ID

D020388;

UMLS CUI

C0013264;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Best vitelliform macular dystrophy [ORDO Disease]
- Bone Mineral Density [NCIt concept]
- Bone Mineral Density Test [NCIt concept]
- Cardiomyopathy, dilated, 3b [OMIM Phenotype]
- DMD Gene [NCIt concept]
- DMD wt Allele [NCIt concept]
- Dilated cardiomyopathy 3B (disorder) [SNOMED CT concept]
- Distal muscular dystrophy (disorder) [SNOMED CT concept]
- Doctor of Dental Medicine [NCIt concept]
- Duchenne and Becker muscular dystrophy [ORDO Disease]
- Dystrophin [OMIM gene]
- Dystrophin [NCIt concept]
- Erb's muscular dystrophy (disorder) [SNOMED CT concept]
- Laser Capture Microdissection [NCIt concept]
- Macular dystrophy, vitelliform, 2 [OMIM Phenotype]
- X-linked dilated cardiomyopathy [DO Concept]
- dystrophin [ORDO Gene]
- erb's muscular dystrophy [SNOMED Notion]
- gower's muscular dystrophy [SNOMED Notion]
Currated CISMeF NLP mapping
- Becker muscular dystrophy [Disease (Nov.)]
- Becker's Muscular Dystrophy [NCIt concept]
- Duchenne Muscular Dystrophy [NCIt concept]
- Duchenne muscular dystrophy [DO Concept]
- Duchenne muscular dystrophy [Disease (Nov.)]
- Duchenne muscular dystrophy [PASCAL descriptor]
- Duchenne muscular dystrophy [ICD-11 Subcategory]
- Duchenne muscular dystrophy [MedDRA Preferred Term]
- Duchenne muscular dystrophy [Artificial nutrition thesaurus concept]
- Duchenne muscular dystrophy [ORDO Disease]
- Duchenne muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy [ICD-10 Sub-category (who)]
- Muscular dystrophy, duchenne type [OMIM Phenotype]
- duchenne muscular dystrophy [SNOMED Notion]
DO Cross reference
- Duchenne muscular dystrophy [DO Concept]
Indexing information
- ANKRD46 protein, human [MeSH Supplementary Concept]
- CMYA5 protein, human [MeSH Supplementary Concept]
- UPIX-1 protein, mouse [MeSH Supplementary Concept]
- ezutromid [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Isolated asymptomatic elevation of creatine phosphokinase [ORDO Disease]
- Myasthenic syndrome with eye involvement [ORDO Disease]
- Neuromuscular disease with dilated cardiomyopathy [ORDO Disease]
- Other muscle weakness and/or chronic muscle pain [ORDO Disease]
- Progressive muscular dystrophy [ORDO Disease]
- Qualitative or quantitative protein defects in neuromuscular diseases [ORDO Disease]
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
MedlinePlus topic(s)
- muscular dystrophy [MedlinePlus Topic]
ORDO relation(s)
- Duchenne muscular dystrophy [ORDO Disease]
Record concept(s)
- becker muscular dystrophy [MeSH concept]
- duchenne and becker muscular dystrophy [MeSH concept]
- muscular dystrophy, duchenne [MeSH concept]
Related MeSH Supplementary Concept(s)
- benign pseudohypertrophic muscular dystrophy [MeSH Supplementary Concept]
See also
- dystrophin [MeSH Descriptor]
See also inter- (CISMeF)
- Becker muscular dystrophy [PASCAL descriptor]
- Becker muscular dystrophy [DO Concept]
- Becker muscular dystrophy [ICD-11 Subcategory]
- Becker muscular dystrophy [ORDO Disease]
- Becker muscular dystrophy (disorder) [SNOMED CT concept]
- Becker's muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy, becker type [OMIM Phenotype]
- duchenne muscular dystrophy [EMDN type]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Duchenne Muscular Dystrophy [NCIt concept]
- Duchenne muscular dystrophy [ORDO Disease]
- Duchenne muscular dystrophy [MedDRA Preferred Term]
- Duchenne muscular dystrophy [DO Concept]
- Duchenne muscular dystrophy [PASCAL descriptor]
- Duchenne muscular dystrophy [Disease (Nov.)]
- Duchenne muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy, duchenne type [OMIM Phenotype]
- duchenne muscular dystrophy [SNOMED Notion]
Validated automatic mappings to NTBT
- muscular dystrophy [MedlinePlus Topic]

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