遺伝性筋疾患

Hereditary Muscle Disorders

遺伝性筋疾患には各種の筋ジストロフィーやミオパチーが含まれ，多くが希少難治性疾患である。しかし研究の進歩により，遺伝性筋疾患にも治療可能な「新時代」が訪れつつある。そのため，遺伝性筋疾患の診断はより重要で，治療可能な疾患を見逃さない必要がある。本論では，新規薬が承認されたデュシェンヌ型筋ジストロフィーをはじめ，種々の筋疾患の治療開発の最前線について解説する。今後さらに，筋疾患の研究と診療の担い手が増え，多くの疾患の病態解明と治療薬確立を期待したい。

Abstract

Hereditary muscle diseases encompass various types of muscular dystrophies and myopathies, many of which are rare and difficult to treat. However, with advancements in research, we are entering a new era in which many hereditary muscle diseases are becoming treatable. Consequently, diagnosing hereditary muscle diseases is increasingly important to ensure that treatable conditions are not overlooked. This article highlights recent advancements in the treatment of various muscle diseases, including Duchenne muscular dystrophy, for which a new drug has been approved. Looking ahead, we hope to see an increase in the number of researchers and clinicians dedicated to muscle disease research and treatment, leading to a deeper understanding of disease pathology and the development of effective therapies.