Disease taxonomy - monogenic muscular dystrophy
نویسندگان
چکیده
منابع مشابه
Muscular Dystrophy: Disease Mechanisms and Therapies
Progressive weakness and degeneration of skeletal muscles caused by genetic alterations fall into the category of muscular dystrophy. Muscular dystrophy occurs worldwide and affects all races. The overall incidence of muscular dystrophy varies among forms, as some forms are more common than others. Muscle loss and weakness are not necessarily caused by genetic alteration. Skeletal muscle inacti...
متن کاملCeliac Disease Associated with Facioscapulohumeral Muscular Dystrophy
Introduction. The association of celiac disease and facioscapulohumeral muscular dystrophy was not reported earlier in the literature. Case presentation. A 35-year-old woman diagnosed clinically with facioscapulohumeral muscular dystrophy 23 years ago. In the family history patients’ mother was diagnosed with facioscapulohumeral muscular dystrophy, too. Physical examination revealed bilateral f...
متن کاملProgressive Muscular Dystrophy as an Endocrine Disease
In the present paper, the author desires to report a somewhat atyp ical form of progressive muscular dystrophy, rather resembling Erb's infantile type, of extremely benign and �low progress. In the cases examined it has occurred as a hereditary affection now in the fourth generation. The number of individuals disabled thus far has been fourteen. Of the seven living members with the disease, al...
متن کاملcongenital 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 ...
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ژورنال
عنوان ژورنال: British Medical Bulletin
سال: 1999
ISSN: 0007-1420,1471-8391
DOI: 10.1258/0007142991902411