Myopathy (Juvenile Type)
نویسندگان
چکیده
منابع مشابه
Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres.
The clinical and laboratory findings of a patient with juvenile acid maltase deficiency are presented. The patient died from respiratory muscle weakness at age 31 years. Muscle biopsy shortly prior to his death showed remarkable vacuolation affecting exclusively type I fibres and mild myopathic changes of both types of muscle fibres, while the muscle biopsy at age 26 years had shown no evidence...
متن کاملCongenital fibre type disproportion myopathy
Nine children with congenital fibre type disproportion (CFTD) are described. Their muscle biopsies contained type 1 fibres which were smaller than the largest type 2 fibres by at least 13.5%. Attention is drawn to the variable natural history of this disorder which generally carries a good prognosis but may sometimes be associated with fatal respiratory problems. For important therapeutic, gene...
متن کاملComparison of Clinical Characteristics Between Congenital Fiber Type Disproportion Myopathy and Congenital Myopathy with Type 1 Fiber Predominance
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber pr...
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A 14-year-old boy was referred to our division with a diagnosis of 'progressive myopathy with psoriasis' after a normal calf muscle biopsy excluded a previously suspected diagnosis of muscular dystrophy. The referring clinician had rejected a diagnosis of inflammatory myositis, based on repeatedly normal serum creatine kinase (CK) levels. Described as a 'lazy child' who refused to play games su...
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A 10-year-old girl manifested persistent fever, skin rash, leg pain, fatigue, and joint pain. Based on muscle weakness, elevated muscle-derived enzymes, magnetic resonance imaging, and skin biopsy results, the diagnosis was juvenile idiopathic inflammatory myopathies (JIIM). Chest CT was normal; the anti-melanoma differentiation-associated protein-5 (anti-MDA5) autoantibody was positive. Initia...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1910
ISSN: 0035-9157
DOI: 10.1177/003591571000300828