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    Lec. 3 - Myopathies

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    Younus Mohammed
    This document contains a lecture on myopathies given by Dr. Zuhair. It defines myopathy as a muscular disease resulting in muscle weakness from problems within the muscle itself rather than the nerves. The lecture covers the various types of myopathies including hereditary syndromes like muscular dystrophies, metabolic myopathies involving defects in energy production, and channelopathies. Diagnosis involves recognizing clinical features, elevated CK levels, EMG, muscle biopsy, and genetic testing. Management focuses on physiotherapy, occupational therapy, and treating any cardiac or respiratory complications.

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    Lec. 3 - Myopathies

    Uploaded by

    Younus Mohammed
    19 views15 pages
    This document contains a lecture on myopathies given by Dr. Zuhair. It defines myopathy as a muscular disease resulting in muscle weakness from problems within the muscle itself rather than the nerves. The lecture covers the various types of myopathies including hereditary syndromes like muscular dystrophies, metabolic myopathies involving defects in energy production, and channelopathies. Diagnosis involves recognizing clinical features, elevated CK levels, EMG, muscle biopsy, and genetic testing. Management focuses on physiotherapy, occupational therapy, and treating any cardiac or respiratory complications.

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    This document contains a lecture on myopathies given by Dr. Zuhair. It defines myopathy as a muscular disease resulting in muscle weakness from problems within the muscle itself rather than the nerves. The lecture covers the various types of myopathies including hereditary syndromes like muscular dystrophies, metabolic myopathies involving defects in energy production, and channelopathies. Diagnosis involves recognizing clinical features, elevated CK levels, EMG, muscle biopsy, and genetic testing. Management focuses on physiotherapy, occupational therapy, and treating any cardiac or respiratory complications.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    19 views15 pages

    Lec. 3 - Myopathies

    Uploaded by

    Younus Mohammed
    This document contains a lecture on myopathies given by Dr. Zuhair. It defines myopathy as a muscular disease resulting in muscle weakness from problems within the muscle itself rather than the nerves. The lecture covers the various types of myopathies including hereditary syndromes like muscular dystrophies, metabolic myopathies involving defects in energy production, and channelopathies. Diagnosis involves recognizing clinical features, elevated CK levels, EMG, muscle biopsy, and genetic testing. Management focuses on physiotherapy, occupational therapy, and treating any cardiac or respiratory complications.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    of 15

    Lec.

    46

    MEDICINE
    Neurology

    Dr.Zuhair

    Lec 3

    2017/2/28

    Done by : Noor Ali Majeed

    ‫ﻣﻛﺗب اﺷور‬
    ‫ﻟﻼﺳﺗﻧﺳﺎخ‬
    2016-2017
    Dr.Zuhair 21/2/2017

    Myopathies
    Note: This lecture has been extensively edited by the students and contains
    much more information than the one presented by the doctor.

    Objectives

    • To recognize existence of muscle diseases


    • To differentiate them from other disorders.
    • To know about various causes of myopathy.
    • To know of basic investigations of myopathy.

    Definition
    Myopathy: is a muscular disease in which the muscle fibers do not function for
    any reason, resulting in muscular weakness. "Myopathy" simply means muscle
    disease (myo- Greek "muscle" + -pathy Greek "suffering"). This meaning implies
    that the primary defect is within the muscle, as opposed to the nerves
    ("neuropathies" or "neurogenic" disorders).

    Muscle disease, either hereditary or acquired, is rare. Most typically, it presents


    with a proximal symmetrical weakness.

    Diagnosis is dependent on recognition of clinical clues, such as cardiorespiratory


    involvement, evolution, family history, exposure to drugs, the presence of
    contractures, myotonia and other systemic features, and on investigation
    findings, most importantly EMG and muscle biopsy.


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    Types
    There are many types of myopathy; generally it is classified as either hereditary
    or acquired and each of these is sub classified into many other types.

    Hereditary syndromes include the

    • Muscular dystrophies: characterized by muscle degeneration and


    regeneration. Clinically, muscular dystrophies are typically progressive,
    because the muscles' ability to regenerate is eventually lost, leading to
    progressive weakness, often leading to use of a wheelchair, and
    eventually death, usually related to respiratory weakness.
    • Muscle channelopathies: Inherited abnormalities of the sodium, calcium
    and chloride ion channels in striated muscle produce various syndromes
    of familial periodic paralysis, myotonia and malignant hyperthermia,
    which may be recognised by their clinical characteristics and potassium
    abnormalities.
    • Metabolic myopathies: which result from defects in biochemical
    metabolism that primarily affect muscle, this includes Mitochondrial
    myopathies, which are due to defects in mitochondria, which provide a
    critical source of energy for muscle.
    • Congenital myopathies: do not show evidence for either a progressive
    dystrophic process (i.e., muscle death) or inflammation, but instead
    characteristic microscopic changes are seen in association with reduced
    contractile ability of the muscles.
    • Again each of these sub classifications is further classified as shown in the
    • boxes below which were taken from Davidson’s Principles and Practice of
    Medicine 22ed 2014.

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    Dr.Zuhair 21/2/2017

    Please note that you don’t need to memorize all the boxes’
    information below as it contains much more information than the
    doctor discussed or wanted for the exam!


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    Muscular dystrophies

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    Dr.Zuhair 21/2/2017


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    Dr.Zuhair 21/2/2017

    These are inherited disorders with progressive muscle destruction, and may be
    associated with cardiac and/or respiratory involvement and sometimes non-
    myopathic features (Box 26.107). Myotonic dystrophy is the most common,
    with a prevalence of about 12/100 000.

    Clinical features The pattern of the clinical features is defined by the specific
    syndromes. Onset is often in childhood, although some patients, especially
    those with myotonic dystrophy, may present as adults.

    • Wasting and weakness are usually symmetrical,


    • No fasciculation or sensory loss
    • Tendon reflexes are usually preserved until a late stage.
    • Weakness is usually proximal, except in myotonic dystrophy type 1, when
    it is distal.

    Investigations The diagnosis can be confirmed by:

    • Creatine kinase (Most important) is markedly elevated in the


    dystrophinopathies (Duchenne and Becker) but is normal or moderately
    elevated in the other dystrophies.
    • EMG and muscle biopsy if necessary
    • Specific molecular genetic testing.
    • Screening for an associated cardiac abnormality (chest x-ray for
    cardiomyopathy or ECG for dysrhythmia) is important.


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    Management
    There is no specific therapy for most of these conditions but physiotherapy and
    occupational therapy help patients cope with their disability. Steroids are used
    in Duchenne muscular dystrophy. Treatment of associated cardiac failure or
    arrhythmia (with pacemaker insertion if necessary) may be required; similarly,
    management of respiratory complications (including nocturnal hypoventilation)
    can improve quality of life. Improvements in non-invasive ventilation have led
    to significant improvements in survival for patients with Duchenne muscular
    dystrophy. Genetic counselling is important.

    Inherited metabolic myopathies: (Mitochondrial disorders & Channelopathies)

    There are a large number of rare inherited disorders that interfere with the
    biochemical pathways that maintain the energy supply (adenosine
    triphosphate, ATP) to muscles. These are mostly recessively inherited
    deficiencies in the enzymes necessary for glycogen or fatty acid (β-oxidation)
    metabolism

    Box 26.108). They typically present with muscle weakness and pain.)

    Mitochondrial disorders
    Mitochondria are present in all tissues and dysfunction causes widespread
    effects, on vision (optic atrophy, retinitis pigmentosa, cataracts), hearing
    (sensorineural deafness), and the endocrine, cardiovascular, gastrointestinal
    and renal systems. Any combination of these should raise the suspicion of a
    mitochondrial disorder, especially if there is evidence of maternal transmission.


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    Mitochondrial dysfunction can be caused by alterations in either mitochondrial


    DNA or genes encoding for oxidative processes. Genetic abnormalities or
    mutations in mitochondrial DNA may affect single individuals and single tissues
    (most commonly muscle). Thus, patients with exercise intolerance, myalgia and
    sometimes recurrent myoglobinuria may have isolated pathogenic mutations in
    genes encoding for oxidation pathways.

    Inherited disorders of the oxidative pathways of the respiratory chain in


    mitochondria cause a group of disorders, either restricted to the muscle or
    associated with non-myopathic features (Box 26.109). Many of these
    mitochondrial disorders are inherited via the mitochondrial genome, down the
    maternal line. Diagnosis is based on clinical appearances, supported by muscle
    biopsy appearance (usually with ‘ragged red’ and/or cytochrome oxidase
    negative fibres), and specific mutations either on blood or, more reliably,
    muscle testing. Mutations may be due either to point mutations or to deletions
    of mitochondrial DNA.

    A disorder called Leber hereditary optic neuropathy (LHON) is characterized by


    acute or subacute loss of vision, most frequently in males, due to bilateral optic
    atrophy. Three point mutations account for more than 90% of LHON cases.

    Channelopathies (has been discussed above)

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    Differential Diagnosis of myopathy


    Ø Lower motor neuron disorders
    Ø Neuropathy, How to differentiate?
    Ø Peripheral neuropathy associated with autonomic changes (fecal and
    urinary incontinence, bradycardia and dry mouth)
    Ø Reflexes are absent (not useful to differentiate only in late or severe
    cases)
    Ø Neuromuscular (bizarre, asymmetric, variable)
    Ø Anterior horn cell (reflexes are absent)

    Limb-girdle

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    Oculo-pharyngeal

    Periodic Paralysis:
    Ø Hypokalemic:
    Ø Na, Ca channel
    Ø After heavy carbohydrate meals, salt
    Treament: Low sugar\salt diet, rich K diet
    Ø Acetazolamide
    Ø Hyperkalemic:
    Ø Na channel
    Ø After K rich meals
    Treatmen: low K diet

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