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1. 眼咽頭型、遠位型，および先天性筋ジストロフィーoculopharyngeal distal and congenital muscular dystrophies [show details]
… CMD with hyperextensible distal joints (Ullrich type), and CMD with mental retardation or sensory abnormalities . The presence of multiple proximal joint contractures… and developmental delay . Cardiac involvement ranges from absent or mild to severe, and is most often associated with dystroglycanopathies such as Fukuyama type,… OPMD is a genetic myopathy with mainly autosomal dominant inheritance. The prevalence of autosomal dominant OPMD is relatively high in the Canadian province of Quebec,…
2. 肢帯型筋ジストロフィーlimb girdle muscular dystrophy [show details]
… including autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B (LGMD1B) with cardiac conduction system disease .… characterized by proximal weakness and flexion contractures. The phenotype is associated with mutations in type VI collagen genes. Emery-Dreifuss muscular dystrophy – The onset of…
3. デュシェンヌ型およびベッカー型筋ジストロフィー：臨床的特徴および診断duchenne and becker muscular dystrophy clinical features and diagnosis [show details]
… Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by a mutation in the FKRP gene and phenotypically resembles DMD/BMD.… attained but may be delayed. However, independent standing and walking is never achieved, in contrast to DMD. Weakness is predominately proximal and affects the legs… Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogenous disorder with X-linked recessive, autosomal dominant,…
4. エメリー‐ドレフェス型筋ジストロフィーemery dreifuss muscular dystrophy [show details]
… topics Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogenous disorder. The most common type is autosomal dominant EDMD caused by a heterozygous LMNA mutation,… Mutations in the FHL1 gene result in delayed myotube formation . The nomenclature and classification of FHL1-linked myopathies/muscular dystrophies is still evolving.…
5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要overview of peripheral nerve and muscle disorders causing hypotonia in the newborn [show details]
… severe type that presents in newborns is spinal muscular atrophy (SMA) type 1, also known as Werdnig-Hoffmann disease. This condition should be suspected in infants with diffuse symmetric proximal muscle… congenital fiber type disproportion, and multicore myopathy. The muscular dystrophies are an inherited group of progressive… although their expression may be delayed until later in infancy or childhood.…