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- W4241310 abstract "This chapter discusses the congenital muscular dystrophies, X- linked pseudohypertrophic muscular dystrophies, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophies, ocular myopathies, and disorders of lipid metabolism. Congenital muscular dystrophies can be with dementia and cerebral malformations and it appears to be autosomal recessive. It is possible that other patients with congenital muscular dystrophy, who are without dementia or epilepsy, have similar intracerebral malformations. In congenital muscular dystrophy with cerebral malformations, the muscle symptoms are distinctive: they are not usually present at birth but develop between two and eight months of age and are severe. The weakness affects face, neck and limbs, proximally more than distally. The chapter discusses X-linked pseudohypertrophic muscular dystrophies, which include Duchenne muscular dystrophy, Becker muscular dystrophy, and Emery-Dreifuss muscular dystrophy. It also explains that facioscapulohumeral muscular dystrophy generally produces symptoms during the second decade, however sometimes earlier or later than this. Onset may be with facial weakness followed soon by shoulder girdle weakness, or with simultaneous weakness of facial and shoulder girdle muscles. The chapter also discusses that ocular myopathies is a heterogenous group of disorders, in which heterogenity can be recognized by the presence or absence of mitochondrial abnormalities in muscle, and by family studies." @default.
- W4241310 created "2016-06-24" @default.
- W4241310 creator A5075115827 @default.
- W4241310 date "1985-01-01" @default.
- W4241310 modified "2023-09-27" @default.
- W4241310 title "Muscle disorders I" @default.
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