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Do you have a myopathy? A guideline to clinical diagnostic

Discussion in 'Other Health News and Research' started by pattismith, Nov 15, 2017.

  1. pattismith

    pattismith Senior Member

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    A PATTERN RECOGNITION APPROACH TO THE PATIENT WITH A SUSPECTED MYOPATHY


    upload_2017-11-15_7-47-46.jpeg

    Abstract

    Myopathies are a heterogeneous group of disorders that can be challenging to diagnose. The purpose of this review is to provide a diagnostic approach based predominantly upon the clinical history and neurologic examination. Laboratory testing that can be subsequently used to confirm the suspected diagnosis based upon this pattern recognition approach will also be discussed. Over the past decade, there have been numerous discoveries allowing clinicians to diagnose myopathies with genetic testing. Unfortunately, some of the testing, particularly molecular genetics, is extremely expensive and frequently not covered by insurance. Careful consideration of the distribution of muscle weakness and attention to common patterns of involvement in the context of other aspects of the neurologic examination and laboratory evaluation should assist the clinician in making a timely and accurate diagnosis, and sometimes can minimize the expense of further testing

    (the full article is available)

    a few extracts:
    ...
    BOX 2
    SYMPTOMS ASSOCIATED WITH MYOPATHIES

    “Negative”:
    Exercise Intolerance
    Fatigue
    Muscle atrophy
    Weakness

    “Positive”:
    Cramps
    Contractures
    Muscle Hypertrophy
    Myalgias
    Myoglobinuria
    Stiffness
    ...
    BOX 3
    MUSCLE DISEASES ASSOCIATED WITH MYALGIAS
    Toxic/drug-induced myopathies (statins and others)
    Eosinophilia-myalgia syndrome
    Hypothyroid myopathy
    Inflammatory myopathies (dermatomyositis, polymyositis)
    Myotonic disorders
    Mitochondrial myopathies
    Tubular aggregate myopathy
    Muscular dystrophies, examples:
    X-linked myalgia and cramps/Becker’s dystrophy variant
    Infectious myositis (especially viral)
    Myoadenylate deaminase deficiency (controversial)

    BOX 4
    MYOPATHIES ASSOCIATED WITH MUSCLE CONTRACTURES
    Brody’s Disease
    Glycolytic/glycogenolytic enzyme defects
     Myophosphorylase deficiency (McArdle’s disease)
     Phosphofructokinase deficiency
     Phosphoglycerate kinase deficiency
     Phosphoglycerate mutase deficiency
     Lactate dehydrogenase deficiency
     Debrancher enzyme deficiency
    Hypothyroid myopathy
    Rippling muscle disease

    BOX 5
    MYOPATHIES ASSOCIATED WITH MUSCLE STIFFNESS
    Hypothyroid myopathy
    Myotonia congenita
    Paramyotonia congenita
    Myotonic dystrophy type 1
    Proximal myotonic myopathy (myotonic dystrophy type 2)
    Hyperkalemic periodic paralysis

    Myopathies Presenting in Adulthood
     Centronuclar myopathy
     Distal myopathies
     Endocrine myopathies – thyroid, parathyroid, adrenal, pituitary disorders
     Inflammatory myopathies - polymyositis, dermatomyositis, inclusion body myositis, viral (HIV)
     Metabolic myopathies – acid maltase deficiency, lipid storage diseases, debrancher
    deficiency, phosphorylase b kinase deficiency
     Mitochondrial myopathies
     Muscular dystrophies – Limb-girdle, Facioscapulohumeral, Becker, Emery-Dreifuss
     Myotonic dystrophy
     Nemaline myopathy
    Toxic myopathies – alcohol, corticosteroids, local injections of narcotics, colchicine,
    chloroquine

    BOX 9
    DRUGS THAT CAN CAUSE TOXIC MYOPATHIES
    Inflammatory:

    • Cimetidine
    • D-penicillamine
    • Procainamide
    • L-tryptophan
    • L-dopa
    Rhabdomyolysis and Myoglobinuria:
    • Alcohol
    • Amphetamine
    • Cholesterol lowering drugs
    • Cocaine
    • Heroin
    • Toluene
    • ε-aminocaproic acid
    Non-inflammatory Necrotizing or Vacuolar:
    • Alcohol
    • Cholesterol lowering agents
    • Chloroquine
    • Colchicine
    • Cyclosporine and tacrolimus
    • Emetine
    • ε-aminocaproic acid
    • Isoretinoic acid (vitamin A analogue)
    • Labetalol
    • Vincristine
     
    Last edited: Nov 15, 2017
    cfs6691 and ryan31337 like this.

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