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The second type is the late onset LAMA2 muscular dystrophy or late onset LAMA2-MD. The age of presentation of late onset LAMA2-MD ranges from early childhood to adulthood. It usually has a mild clinical presentation in the form of progressive spine and joint contractures, and cardiac and respiratory failure. [1]
The diagnosis of muscular dystrophy is based on the results of muscle biopsy, ... Age of onset Muscles affected ... even with boys late in their ambulation stage ...
Classic distal muscular dystrophies Type Eponym Inheritance OMIM Gene Locus Gene also implicated in: Late adult-onset type 1 [4] Welander AD [5] 604454: TIA1 [6] 2p13 [7] Late adult-onset type 2a [5] - Finnish (tibial) Udd AD [5] 600334: TTN [5] 2q31.2 Late adult-onset type 2b [5] Markesbery–Griggs AD [8] ZASP [5] 10q23.2 Early adult-onset ...
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
Werdnig-Hoffmann disease should not be confused with Hoffmann syndrome, which is a type of adult-onset hypothyroid myopathy.) [18] The eponymous term Kugelberg–Welander disease named after Erik Klas Hendrik Kugelberg (1913–1983) and Lisa Welander (1909–2001), who first documented the late-onset form and distinguished it from muscular ...
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [1] Other manifestations may include cataracts, intellectual disability and heart conduction problems.
Late-onset distal myopathy, Markesbery-Griggs type Zaspopathy has an autosomal dominant pattern of inheritance . Zaspopathy , [ 1 ] also called ZASP-related myofibril myopathy , [ 2 ] is a novel autosomal dominant [ 3 ] form of progressive muscular dystrophy , first described in 2005.
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), [1] is a rare form of autosomal recessive congenital muscular dystrophy. [2]
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