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Duchenne muscular dystrophy: 310200: DMD: XR: Childhood Distal limbs progressing to generalised weakness, involving respiratory muscles The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting.
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases.They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
Duchenne muscular dystrophy is the most common type of muscular dystrophy, [3] with a median life expectancy of 27–31 years. [5] [11] However, with comprehensive care, some individuals may live into their 30s or 40s. [3] Duchenne muscular dystrophy is considerably rarer in females, occurring in approximately one in 50,000,000 live female ...
[1] [2] For consensus, generally, the term congenital muscular dystrophy refers to a diverse group of childhood onset muscle diseases -usually occurring the first two years of life- and mostly inherited through an autosomal recessive mode. Congenital muscular dystrophies have known phenotype-genotype profiles and produce muscle degenerative ...
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
DM1 is the most common form of myotonic muscular dystrophy diagnosed in children, with a prevalence ranging from 1 per 100,000 in Japan to 3–15 per 100,000 in Europe. [13] The prevalence may be as high as 1 in 500 in regions such as Quebec, possibly due to the founder effect. The incidence of congenital myotonic dystrophy is thought to be ...
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