Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
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Preferred Name

Duchenne and Becker muscular dystrophy
Synonyms

Severe dystrophinopathy, Duchenne and Becker type
Definitions

A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.
ID

http://www.orpha.net/ORDO/Orphanet_262
alternative_term

Severe dystrophinopathy, Duchenne and Becker type
definition

A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=262
has_age_of_onset

Adolescent

Adult

Childhood
has_inheritance

X-linked recessive
hasDbXref

UMLS:C3542021
label

Duchenne and Becker muscular dystrophy
notation

Clinical group

ORPHA:262
prefixIRI

ORDO:Orphanet_262
prefLabel

Duchenne and Becker muscular dystrophy
present_in

United States AND has_point_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_range : 1-9 / 100 000

United Kingdom AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000
subClassOf

http://www.orpha.net/ORDO/Orphanet_206644

http://www.orpha.net/ORDO/Orphanet_217610

http://www.orpha.net/ORDO/Orphanet_557492
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