Şevki ŞAHİN, Mehmet Ali AKALAIN, Meral KIZILTAN

Parmaklarda ekstansor güç kaybı ile kliniğe yansıyan bir nemalin miyopati olgusu

Konjenital miyopatiler nadir görülen genetik hastalıklardır. Çok değişik bul gularla kliniğe yansıyabildiğinden, ta nıda zaman zaman güçlük çekilebilir. Bu yazıda geç ortaya çıkışı ve el eks tansörlerinde güçsüzlükle kliniğe yansı yan, 39 yaşındaki nemalin miyopati ol gusu sunulmuş ve diğer konjenital mi yopatilerden ayrımı son literatür bilgile riyle tartışılmış ve tanıda genetik analiz ve biyopsi tekniklerinin katkısı bir kez daha vurgulanmıştır.

A case of nemaline myopathy presenting as extensor weakness on fingers

Background.- Wide spectrum of genetic defects may lead to congenital myopathies. Thus, clinical features such as age of onset, distribution of weakness and other associating diseases, may very considerably.Diagnostic difficulties are encountered with adult ondet and atypical patterns myopathy. Observation.- This patient, with dismorphic changes, congenital bilateral drop foot, presenting with subacute onset weakness of finger extensors, were diagnosed as .nemaline myopathy. by way of histopathologic examination. In this case report, a rare form of adult onset nemaline myopathy is discussed.

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