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    Neuromuscular Diseases in Children

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    Sven Ordanza
    This document provides an overview of neuromuscular diseases in children, discussing various conditions affecting different levels of the neuromuscular system. It describes scales for evaluating muscle power and takes an anatomical approach, covering suprasegmental conditions of the central nervous system, anterior horn cell diseases, peripheral neuropathies, the neuromuscular junction condition myasthenia gravis, muscle disorders including various muscular dystrophies and myopathies. Specific childhood conditions are discussed such as different forms of spinal muscular atrophy.

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    Neuromuscular Diseases in Children

    Uploaded by

    Sven Ordanza
    100 views40 pages
    This document provides an overview of neuromuscular diseases in children, discussing various conditions affecting different levels of the neuromuscular system. It describes scales for evaluating muscle power and takes an anatomical approach, covering suprasegmental conditions of the central nervous system, anterior horn cell diseases, peripheral neuropathies, the neuromuscular junction condition myasthenia gravis, muscle disorders including various muscular dystrophies and myopathies. Specific childhood conditions are discussed such as different forms of spinal muscular atrophy.

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    This document provides an overview of neuromuscular diseases in children, discussing various conditions affecting different levels of the neuromuscular system. It describes scales for evaluating muscle power and takes an anatomical approach, covering suprasegmental conditions of the central nervous system, anterior horn cell diseases, peripheral neuropathies, the neuromuscular junction condition myasthenia gravis, muscle disorders including various muscular dystrophies and myopathies. Specific childhood conditions are discussed such as different forms of spinal muscular atrophy.

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    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    100 views40 pages

    Neuromuscular Diseases in Children

    Uploaded by

    Sven Ordanza
    This document provides an overview of neuromuscular diseases in children, discussing various conditions affecting different levels of the neuromuscular system. It describes scales for evaluating muscle power and takes an anatomical approach, covering suprasegmental conditions of the central nervous system, anterior horn cell diseases, peripheral neuropathies, the neuromuscular junction condition myasthenia gravis, muscle disorders including various muscular dystrophies and myopathies. Specific childhood conditions are discussed such as different forms of spinal muscular atrophy.

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    of 40

    NEUROMUSCULAR

    DISEASES IN CHILDREN

    Marietta M. Diaz, MD
    Scale for Evaluation of
    Muscle Power
    0- No contraction
    1- Flicker or trace of contraction
    2- Active movement, with gravity
    eliminated
    3- Active movement against gravity
    4 Active movement against gravity
    and resistance
    5 Normal power
    Anatomical Approach to
    Neuromuscular Diseases
    Interdependence of neural connections between
    central and peripheral nervous system
    Suprasegmental Conditions

    Nonspecific mental deficiency


    Hypotonic cerebral palsy
    Birth trauma, hemorrhage, hypoxia
    Chromosomal disorders
    Metabolic, Nutritional and
    Endocrine Disorders
    Congenital Heart Diseases
    Suprasegmental Conditions:
    Features

    hypotonia
    normoactive , decreased or
    increased DTRs
    normal motor power
    normal EMG
    normal muscle biopsy
    Anterior Horn Cell

    Hereditary- spinal muscular atropies


    Acquired- Poliomyelitis
    Anterior Horn Cell:
    Features
    hypotonia
    decreased motor power
    normal deep tendon reflexes
    muscle atrophy
    abnormal EMG
    Spinal Muscular Atrophies

    Severe Spinal Muscular Atrophy


    ( Werdnig Hoffman Disease)
    Intermediate Severity Spinal
    Muscular Atrophy
    Mild Spinal Muscular Atrophy
    Kugelberg Welander Disease)
    Wernig Hoffman Disease

    early onset- birth to 1st 3 months of


    life
    generalized hypotonia
    marked weakness
    tendon reflexes absent
    frog leg posture
    recurrent respiratory infection
    dies within 1st 2 years of life
    Intermediate Severity Spinal
    Muscular Atrophy
    Starts manifesting above 6 months
    od life
    able to sit unaided but not able to
    stand or walk
    tremors of the hand
    normal intellect
    live up to adolescene or adulthood
    respiratory problems if intercostals
    are affected
    Mild Spinal Muscular Atrophy
    Kugelberg Welander Disease
    normal milestones up to 1st year of
    life
    mild weakness-involves pelvic
    girdle,arms, hands
    normal or depressed DTRs
    no respiratory difficulty
    Peripheral Neuropathies
    A.Demyelinating-motor conduction velocity
    is markedly slowed to half the normal
    rate
    ex. Infectious polyneuritis,peroneal
    muscular atrophy, leucodystrophies
    B. Axonal-conduction velocity may be
    normal or only slightly depressed
    ex. Toxins,diabetes,porphyria
    Peripheral Neuropathies
    A. Hereditary
    Hereditary Motor and Sensory Neuropathies
    HMSN I -hypertrophic neuropathy(peroneal
    muscular atrophy
    HSMN II -neuronal type of peroneal muscular
    atrophy
    HSMNIII hypertrophic neuropathy of
    infancy(Dejerines Sottas)
    HSMN IV-hypertrophic neuropathy with
    excess phytanic acid (Refsums disease)
    HSMN V peripheral neuropathy with spastic
    diplegia
    B. Acquired
    Infectious- poliomyelitis
    Traumatic-Erb Duchennes Palsy
    Metabolic- Diabetes
    Nutritional- Vitamin B deficiency
    Neuromuscular Junction
    Myasthenia Gravis: Types
    1.Transient Neonatal-infants of myasthenic
    mothers,limp with genralized
    hypotonia,difficulty in sucking and
    swallowing, ptosis and facial weakness,
    lasts for 2-4 weeks
    2. Congenital or Infantile-non-myastenic
    mothers,onset after the neonatal period,
    usually within the 1st 1-2 years of life,weak
    cry, grunting,generalized
    weakness,respiraory difficulties
    3. Juvenile-onset between 2- 20 yrs, ptosis
    with or without opthalmoplegia,weakness
    particularly at the end of the day
    Neuromuscular Junction
    Myasthenia Gravis:
    Management
    Anticholinesterase drugs
    Steroids
    Immunosuppressants
    Thymectomy
    Muscle Disorders

    Muscular dystrophies
    Myotonic dystrophies
    Metabolic myopathies
    Congenital myopathies
    Muscular dystrophies

    Group of genetically determined


    disorders with progressive
    degeneration of skeletal muscle and
    no stuctural abnormality in the CNS
    or PNS
    Muscular Dystrophies:
    Inheritance
    Duchenne X-linked recessive
    Becker X-linked recessive
    Limb girdle Autosomal recessive
    Scapulohumeral Autosomal recessive

    Fascioscapulo Dominant
    humeral
    Ocular Dominant
    Myotonic Dystrophies

    Clinical feature common to all


    myotonic disorders is myotonia
    which is a state of delayed
    relaxation or sustained contraction
    Congenital Myopathies

    Group of diseases which my present


    at birth or much later as varied
    degrees of muscle weakness, mainly
    proximal but others diffuse having
    structural changes in the muscles or
    recognizable biochemical defects
    Congenital Myopathies
    A.Metabolic /Endocrine
    Myopathies
    Inborn errors of metabolism
    Thyroid disorders
    Pituitary and adrenals
    Nutritional myopathies
    Congenital Myopathies
    B.Structural
    Central core disease
    Minicore disease
    Nemaline myopathy
    Mitochondrial myopathies

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