Titlebook: Neuromuscular Disorders; A Comprehensive Revi Satish V. Khadilkar,Rakhil S. Yadav,Bhagyadhan A. Book 20181st edition Springer Nature Singa

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Book 20181st editioners disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found..

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Motor Neuron Diseases (Amyotrophic Lateral Sclerosis)ial. Amyotrophic lateral sclerosis (ALS) is common and active disorder of brain and spinal cord motor neurons. ALS is fundamentally a clinical diagnosis, supported by neurophysiological testing. There are no cures for ALS, but there are evidence-based guidelines for standards of care.

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Congenital Muscular Dystrophiessorders of glycosylation, defects of structural proteins, proteins of endoplasmic reticulum and of the nucleus). Neuromuscular and non-neuromuscular clinical features form an important part of the diagnostic evaluation. MRI of the muscles and brain and muscle immunocytochemistry can provide diagnostic information.

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Congenital Myopathiesd congenital fibre-type disproportion constitute majority of this group. Muscle biopsy plays an important role in diagnosis and classification of congenital myopathies. Therapy is usually supportive and directed bulbar dysfunction, respiratory distress and joint contractures.