overview of muscular dystrophies
نویسندگان
چکیده
muscular dystrophies are inherited disorders that cause progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. some of the genes responsible for these conditions have been identified .there are a number of different types of muscular dystrophy. the primary symptom for most types is muscle weakness, although some are associated with other problems, such as heart disease or mental retardation. the diseases are distinguished from one another by the type of symptoms and the nature of the genetic abnormality causing the disorder. major types of muscular dystrophies are classified as follows: dystrophinopathies (dmd, bmd, duchene outlier, female duchene, female carriers), limb girdle md, facioscapulohumeral md (fsh), emery-dreifuss md, oculopharyngeal md, distal md (miyoshi), congenital md. the genetic defect that causes muscular dystrophy is passed from one or both parents to a child by a specific pattern of inheritance that varies from one type of muscular dystrophy to another. duchene, becker, and emery-dreifuss muscular dystrophy are transmitted through x-linked inheritance. congenital muscular dystrophy, emery-dreifuss, and some types of limb-girdle muscular dystrophy can develop if either of the parents sex chromosomes carries the defect and is passed to the infant. facioscapulohumeral, myotonic, emery-dreifuss, and some types of limb-girdle muscular dystrophy develop if both the mother and father pass a defective sex chromosome to their infant. myotonic dystrophy is the most common form of md, and is passed on from an affected parent. if neither parents has the disease, their children can not inherit it. however, occasionally the disease is mild enough that parents are not aware of the problem, even though the child may be more severely affected. in this review we will aquinted with clinical presentation and diagnosis of different muscular dystrophies and clinical.
منابع مشابه
The muscular dystrophies.
The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal; facioscapulohumeral; oculopharyngeal; and limb-girdle whic...
متن کاملThe muscular dystrophies.
In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal; interesting because of its peculiar features and...
متن کاملThe muscular dystrophies.
The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a ...
متن کاملmyotonic muscular dystrophies
The concept of the muscular dystrophies as primary degenerative diseases of muscle has been increasingly challenged in recent years (Fenichel et al., 1967; Gardner-Medwin et al., 1967; Munsat et al., 1972; Gallup and Dubowitz, 1973). Considerable support for the neurogenic hypothesis in muscular dystrophy has come from the results obtained using an electrophysiological technique for the estimat...
متن کاملLimb-girdle muscular dystrophies.
PURPOSE OF REVIEW The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs). RECENT FINDINGS Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular dystrophies has been further enlarged by the ...
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۶، شماره ۳، صفحات ۱۳۹۸-۱۳۹۸
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