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العنوان
Overview of the epidemiological and clinical characteristics of neuromuscular disorders in children :
الناشر
Hanan Ameen Ahmed Alsabri ,
المؤلف
Hanan Ameen Ahmed Alsabri
هيئة الاعداد
باحث / Hanan Ameen Ahmed Alsabri
مشرف / Laila Abdel Moteleb Sleem
مشرف / Amina Abdelsalam Mahmoud
مشرف / Marise Antoun Fahmy Abdou
تاريخ النشر
2016
عدد الصفحات
150 P. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
9/3/2016
مكان الإجازة
جامعة القاهرة - كلية الطب - Pediatrics
الفهرس
Only 14 pages are availabe for public view

from 163

from 163

Abstract

Introduction: Neuromuscular diseases define disorders of the motor unit and according to the site of the lesion, they are classified into diseases of the ante- rior horn cells as spinal muscular atrophies (SMA), peripheral neuropathies, dis- eases affecting the neuromuscular junction and diseases of the muscles themselves known as myopathies. The aim of this study is to describe epidemiology, clinical, neurophysiolog- ical, biochemical and radiological characteristic of these disorders. Subjects & Methods : The clinical, biochemical, radiological and neuro- physiologic data of all pediatric patients with a confirmed neuromuscular disorder , visiting the neuromuscular clinic, at the center of social and preventive medicine , Cairo university Children Hospital, were analyzed and their frequency was calcu- lated . Results: This study involved 100 patients with confirmed NMD s. They were classified according to their order of frequency into; myopathic disorders (45%), neuropathic disorders (23%), anterior horn cell disorders (11%), and myas- thenia gravis reported in one patient only (1%). Amongst the myopathic group, the dystrophinopathies especially DMD (48.9%) and BMD (13.3%) were predominant. In Neuropathic disorders, GBS came on the top of the list (52, 2%), followed by HSMN type II (13%). As regards AHCDs, infantile spinal muscular atrophy was the most common (90.9%). Conclusion: Every effort should be done to reach a specific diagnosis in each patient with neuromuscular disorder especially molecular diagnosis as with the advent of new drugs, some neuromuscular disorders like DMD/BMD become amenable to treatment