ORPHA:206546

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Type: Disease
Group: Disorder
Inheritance: X-linked recessive
Age of onset: Adult
Status: active

A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
fr	Forme symptomatique de la dystrophie musculaire de Duchenne et Becker de la femme porteuse
de	Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen
es	Forma sintomática de la distrofia muscular de Duchenne y Becker en mujeres portadoras
it	Forma sintomatica della distrofia muscolare di Duchenne e di Becker nelle femmine portatrici
nl	Symptomatische vorm van spierdystrofie van Duchenne en Becker bij vrouwelijke dragers
pt	Forma sintomática de distrofia muscular de Duchenne e Becker em portadoras
pl	Objawowa postać dystrofii mięśniowej Duchenne'a i Beckera u kobiet nosicielek
cs	Symptomatická forma Duchenovy a Beckerovy svalové dystrofie u žen přenašeček
uk	Симптоматична форма мязової дистрофії Дюшена і Беккера у жінок-носіїв
zh	女性Duchenne型和Becker型肌营养不良症携带者症候
tr	Kadın taşıyıcılarda Duchenne ve Becker kas distrofisi semptomatik formu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	G71.0	NTBT	attributed	validated
ICD-11	8C70.0	BTNT	specific	validated
ICD-11	8C70.1	BTNT	specific	validated
MONDO	0016097	E		validated
UMLS	C4707359	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:262Duchenne and Becker muscular dystrophy
rare cardiac diseases; rare genetic diseases; rare neurological diseases; rare transplant-related disorders
ORPHA:207085Qualitative or quantitative defects of dystrophin
rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DMD	Disease-causing germline mutation(s) in	Assessed	HGNC:2928	ENSG00000198947	300377	Xp21.2-p21.1	dystrophin

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

20 annotations · validated 2021-12-02

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0003236	Elevated circulating creatine kinase concentration
HP:0002938	Lumbar hyperlordosis
HP:0003701	Proximal muscle weakness
Occasional (29-5%)
HP:0001435	Abnormality of the shoulder girdle musculature
HP:0030097	Absent muscle dystrophin expression
HP:0008981	Calf muscle hypertrophy
HP:0001644	Dilated cardiomyopathy
HP:0003710	Exercise-induced muscle cramps
HP:0003324	Generalized muscle weakness
HP:0002540	Inability to walk
HP:0001712	Left ventricular hypertrophy
HP:0003394	Muscle spasm
HP:0003326	Myalgia
HP:0003731	Quadriceps muscle weakness
HP:0002942	Thoracic kyphosis
HP:0002943	Thoracic scoliosis
Very rare (<4-1%)
HP:0001635	Congestive heart failure
HP:0002987	Elbow flexion contracture
Excluded (0%)
HP:0003409	Distal sensory impairment of all modalities
HP:0002380	Fasciculations

Annotation source: 32022138 [PMID]_20301298[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/206546
This record as JSON: /data/d/206546.json