Catalog

Symptomatic form of Duchenne muscular dystrophy in female carriers

No MMS code

Link to WHO Definition

Symptomatic form of Duchenne muscular dystrophy in female carriers – http://id.who.int/icd/entity/1728612144

Duchenne muscular dystrophy in females carriers is characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Prevalence is unknown: Only a small percentage of female carriers have been reported to manifest these diseases (24% of female carriers from families with DMD. Symptomatic female carriers usually present later in life. Females with clinical features of DMD are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome (complete or partial absence of an X chromosome). The prognosis for symptomatic female carriers is variable, but the disease course tends to be milder in females than in males and progression is slow.