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Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. [7] It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. [ 8 ]
Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). [2] It preferentially affects the muscles of the hip girdle and shoulder girdle. No disease modifying pharmaceuticals have been developed as of 2019, although physical therapy, lifestyle modification, and orthopedic surgery can address symptoms.
Muscular dystrophies may be X-linked recessive, autosomal recessive, or autosomal dominant. [2] ... Limb–girdle muscular dystrophy: Multiple Multiple AD, AR: Any
Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. [1] [2] They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein.
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. [2] There are two types of Bethlem myopathy, based on which type of collagen is affected. [3] Bethlem myopathy 1 (BTHLM1) is caused by a mutation in one of the three genes coding for type VI collagen.
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body.
Distal muscular dystrophy: ... autosomal dominant, or from both parents, autosomal recessive. There are eight known types of distal myopathy. ... limb-girdle muscular ...
[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 ...
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