Metabolic and Mitochondrial Myopathies

Sep 2, 2016 by in NEUROLOGY Comments Off on Metabolic and Mitochondrial Myopathies

McArdle disease, an autosomal recessive myophosphorylase deficiency leading to glycolytic defects, is the common glycogen storage disease (GSD). Other glycolytic defects—phosphofructokinase, phosphoglycerate mutase, and lactic dehydrogenase deficiencies—produce similar clinical pictures….

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Myoglobinuric Syndromes Including Malignant Hyperthermia

Sep 2, 2016 by in NEUROLOGY Comments Off on Myoglobinuric Syndromes Including Malignant Hyperthermia

Myoglobinuria—the presence in urine of a 17.8-kDa, red pigment, iron-protein compound called myoglobin—results from rhabdomyolysis, which is the acute breakdown or necrosis of skeletal muscle fibers whose contents (among them…

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Myopathies: Hypokalemia/Hyperkalemia and the Periodic Paralyses Channelopathies Myopathies Associated with Disorders of Potassium Metabolism

Sep 2, 2016 by in NEUROLOGY Comments Off on Myopathies: Hypokalemia/Hyperkalemia and the Periodic Paralyses Channelopathies Myopathies Associated with Disorders of Potassium Metabolism

Hypokalemia-associated weakness does not usually become problematic until potassium levels fall toward and then below 1.5 mEq/L, with mild weakness, fatigue, and muscle cramping giving way to severe and generalized…

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Endocrine, Toxic, and Critical Illness Myopathies

Sep 2, 2016 by in NEUROLOGY Comments Off on Endocrine, Toxic, and Critical Illness Myopathies

Hypothyroid Myopathy. Most patients with myxedema (chronic hypothyroidism) complain of weakness; 25% have objective proximal muscle weakness. Myoedema, an electrically silent mounding of percussed muscle, occurs in one third of…

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Immunopathology for Inflammatory Myopathies

Sep 2, 2016 by in NEUROLOGY Comments Off on Immunopathology for Inflammatory Myopathies

Pathogenesis of Dermatomyositis. A striking feature observed in muscle biopsies taken from patients with DM is the presence of a diverse collection of cell types: CD4+ T lymphocytes, B lymphocytes,…

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Inclusion Body Myositis

Sep 2, 2016 by in NEUROLOGY Comments Off on Inclusion Body Myositis

Serum creatine kinase (CK) is mildly to, at most, moderately elevated (<10 times normal). Electromyography (EMG) discloses fibrillation potentials and a mixed population of motor unit potentials (MUPs): low-amplitude myopathic…

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Polymyositis and Dermatomyositis

Sep 2, 2016 by in NEUROLOGY Comments Off on Polymyositis and Dermatomyositis

The prevalence of PM/DM is 1 per 100,000 adults, with a female to male ratio of 2 : 1; there is also a childhood form of dermatomyositis. Presenting symptoms include…

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Other Types of Muscular Dystrophy

Sep 2, 2016 by in NEUROLOGY Comments Off on Other Types of Muscular Dystrophy

FSHD is inherited in an autosomal dominant (AD) fashion with nearly complete penetrance and variable expressivity, with mild and severe cases seen in the same family. It is due to…

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Myotonic Dystrophy and Other Myotonic Disorders

Sep 2, 2016 by in NEUROLOGY Comments Off on Myotonic Dystrophy and Other Myotonic Disorders

Both DM1 and DM2 are characterized by skeletal muscle weakness and myotonia with additional multisystem involvement. DM1 commonly presents in adolescence and early adult life, as well as a severe…

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