近年，筋ジストロフィーの原因遺伝子が続々と明らかになり，遺伝子異常に基づく診断，分類がなされるようになってきている．また，各原因遺伝子に対する研究は，疾患の病態解明や治療法開発を可能とし，特に筋ジストロフィーの中で最も頻度の高いDuchenne型筋ジストロフィーでは，2020年に日本発のエクソンスキッピング治療薬が上市され，保険診療下で治療可能となった．

ulrich congenital muscular dystrophy is an autosomal recessive disorder of collagen type vi-related disorders. this condition presents with early onset proximal joint contractures, muscle weakness and hyperelasticity of the distal joints. prominent calcanei are common. muscle weakness is so profound that children never achieve the ability to walk independently or walk for only short periods. se...

AIM To identify possible associations between muscular pain and headache in adolescents in a large population-based sample. METHODS Grammar school students were invited to fill in a questionnaire on headache and associated lifestyle factors. Headache was classified according to the German version of the International Classification of Headache Disorders (2nd edition). Muscular pain was assess...

From the point of view of genetic counselling carrier detection is most important in X-linked disorders. Okinaka et al. (1959) were the first to employ the serum level of creatine kinase to detect female carriers of X-linked Duchenne muscular dystrophy. Since then many investigators have confirmed the usefulness and reliability of this test. So far results on over 200 carriers have been reporte...

Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are characterized by progressive muscle wasting and weakness. Although these diseases have been clinically recognized for a number of years, genetic defects in a number of muscular dystrophies have only recently been identified. One of the most important advances in understanding the molecular genetics of neu...

Muscular diseases lead to muscle fiber degeneration, impairment of mobility, and in some cases premature death. Many of these muscular diseases are largely idiopathic. The goal of this study was to identify biomarkers based on their functional role and possible mechanisms of pathogenesis, specific to individual muscular disease. We analyzed the muscle transcriptome from five major muscular dise...