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Chapter-36 Pediatric Neuromuscular Disorders

BOOK TITLE: The Short Textbook of Pediatrics

Author
1. Gupte Suraj
2. B Vishnu Bhat
ISBN
9788184484694
DOI
10.5005/jp/books/10983_36
Edition
11/e
Publishing Year
2009
Pages
8
Author Affiliations
1. Maharaja Agrasen Medical College, Agroha, Hisar, India, Mamata Medical College and General and Super Specialty Hospitals, Khammam, Telangana, India, Mamata Medical College/Mamata General and Superspeciality Hospitals, Khammam, Telangana, South India, Mamata Medical College/Mamata, General and Superspecialty Hospitals, Khammam, Telangana, India, Postgraduate Department of Pediatrics Mamata Medical College and Hospital Khammam, Andhra Pradesh, India, Mamata Medical College/Mamata General and Superspecialty Hospitals, Khammam 507002, Andhra Pradesh, India, Mamata Medical College/Mamata General and Superspecialty Hospitals, Khammam, Andhra Pradesh, India, Mamata Medical College and Hospitals, Khammam, Andhra Pradesh, India, Narayana Medical College/Narayana General and Superspeciality Hospitals, Nellore 524002, AP, South India, Narayana Medical College and Hospital, Nellore, AP, India, Narayana Medical College/Narayana General and Superspeciality Hospitals, Nellore, Andhra Pradesh (India), Children’s Health Cen
2. Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India
Chapter keywords

Abstract

At the very outset, the text clarifies the term “neuromuscular disorders” as including the diseases of the motor unit having four components, namely motor neurons in the brainstem or ventral horn of the spinal cord, peripheral nerve, neuromuscular junction and muscle fibers innervated by a single motor neuron. In spite of the fact that the motor unit is under upper motor neuron control, such suprasegmental disorders as cerebral palsy are not included under neuromuscular disorders. An important point to bear in mind is that clinical evaluation of neuromuscular system should never miss out on muscle bulk, tone and strength. Moreover, in laboratory evaluation, important investigations include serum enzymes like creatine phosphokinase, nerve conduction velocity, electromyography, muscle biopsy (most vital), nerve biopsy (usually from sural nerve), ECG and serial pulmonary function tests. From this point, the text moves on to neuromuscular transmission disorders (myasthenia gravis), motor neuron disorders (spinal muscular atrophy), and muscular dystrophies, endocrinal and metabolic myopathies. Pseudohypertrophy muscular dystrophy/Duchenne muscular dystrophy is dealt with at length supported by clinical illustrations showing stages of Gower sign. The future role of molecular genetic engineering as a cure for DMD through myoblast transfer therapy, introduction of a recombinant dystrophin gene ligated to an appropriate promoter by intramuscular injection, or use of retroviruses with viral DNA incorporating the deleted nucleotide sequences of dystrophin gene is highlighted.

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