کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3091064 1190329 2011 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical Approach to the Diagnosis of Congenital Myopathies
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Clinical Approach to the Diagnosis of Congenital Myopathies
چکیده انگلیسی

In this issue of Seminars in Pediatric Neurology, each chapter will focus on the features and management of individual congenital myopathies. This introductory chapter will provide an overview of the clinical features that alert the clinician to the likely diagnosis of a congenital myopathy, and specific features on history and examination that are characteristic of a specific genetic subtype. Most congenital myopathies share a common pattern of clinical features, which makes it difficult to predict the genetic cause in a patient by clinical assessment alone. Although no single feature is specific for the congenital myopathies, the presence of this common pattern highlights patients in whom a muscle biopsy is likely to provide important diagnostic information. The diagnosis of a specific congenital myopathy should only be made when the defining morphologic feature is the predominant pathologic change, other possible causes have been excluded, and the clinical course is nonprogressive or only slowly progressive.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Pediatric Neurology - Volume 18, Issue 4, December 2011, Pages 216–220
نویسندگان
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