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

MedGen UID:
1631985
Concept ID:
C4707359
Disease or Syndrome
Synonyms: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier; symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
SNOMED CT: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (765197008)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Monarch Initiative: MONDO:0016097
Orphanet: ORPHA206546

Definition

Disease with characteristics of variable degrees of muscle weakness due to progressive skeletal myopathy sometimes associated with dilated cardiomyopathy or left ventricle dilation. Duchenne and Becker muscular dystrophies primarily affect males and only a small percentage of female carriers have been reported to manifest these diseases. Symptomatic female carriers usually present later in life, muscle weakness is generally mild to moderate and is usually proximal and asymmetric, some patients present with cardiac manifestations alone. Females with clinical features are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

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