VII. Muscular Dystrophy
نویسندگان
چکیده
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．
منابع مشابه
congenital muscular dystrophy : an overview
congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
متن کاملMuscular dystrophy.
MANY observers have reported pathologic changes in the myoeardium of patients with muscular dystrophy similar to those in the skeletal muscles.'-8 Clinical evidence of involvement of the heart has also been noted, consisting of persistent tachycardia,9 10 arrhythmias,10 congestive heart failure, chest pain, cardiac enlargement, changes in heart sounds, murmurs, electrocardiographic alterations ...
متن کاملMuscular Dystrophy
Introduction. First, we will give a general overview of the generation of muscle contraction in a normal cell. Skeletal muscle contraction is accomplished by the generation of a neuronal action potential that terminates at the neuromuscular synapse. The neuronal action potential (AP) stimulates sodium channels in the neuronal axon that propagates the signal along the axon. As the AP reaches the...
متن کاملMuscular dystrophy
Are things clearer now? Yes. A breakthrough came in 1987 when the causative gene for the most common severe form of MD, Duchenne muscular dystrophy (DMD — the field is rich in eponyms, too) was found. Since then, the genes affected in many MDs have been discovered, enabling classification and diagnosis to be put on a much more secure footing. Some traditional disease categories have split as a ...
متن کاملMuscular Dystrophy
MANY observers have reported pathologic changes in the myoeardium of patients with muscular dystrophy similar to those in the skeletal muscles.'-8 Clinical evidence of involvement of the heart has also been noted, consisting of persistent tachycardia,9 10 arrhythmias,10 congestive heart failure, chest pain, cardiac enlargement, changes in heart sounds, murmurs, electrocardiographic alterations ...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai zasshi
سال: 2022
ISSN: ['1883-2083', '0021-5384']
DOI: https://doi.org/10.2169/naika.111.1548