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Approach to myopathy

Approach to myopathy. Dr omid yaghini. MUSCLES DISORDERS. Definition: Diseases involving the muscle fibers (myogenic) Unlike: neuronopathies : secondary to LMN Heterogenous etiology, genotype, phenotype… No specific treatment for most of them.

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Approach to myopathy

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  1. Approach to myopathy Dromidyaghini

  2. MUSCLES DISORDERS Definition: • Diseases involving the muscle fibers (myogenic) • Unlike: neuronopathies: secondary to LMN • Heterogenous etiology, genotype, phenotype… • No specific treatment for most of them

  3. Myoblasts fusing to form large multi-nucleate muscle cells

  4. white= fast (speed)red= slow (endurance)

  5. ETIOLOGY / CLASSIFICATION • Inherited myopathies • Muscular dystrophies • Congenital myopathies • Inherited channelopathies • Periodic paralysis • Inherited metabolic myopathies Disorders of glycolysis Disorders of oxidative metabolism Lipid myopathies Mitochondrial myopathies

  6. Acquired myopathies Inflammatory myopathies Acquired metabolic myopathies Toxic myopathies

  7. Weakness • Constant fluctuation • Longlife acquired MG periodic P • metabolic • Progressive static • Dystrophy congenital

  8. muscular dystrophy • are inherited myopathy characterized by progressive muscles weakness &degeneration &subsequent replacement by fibrous & fatty connective tissue • Historically were categorized by their: • Age onset /distribution of weakness& pattern of inheritance • The genetic mutation &abnormal gene product were defined for many of them

  9. MD

  10. Congenital myopathy • Are distinguished from dystrophy in threerespect: • Characteristic morphologic alteration • At birth • Non progressive • However there are exception to all these generalization • Inheritance: are variable

  11. c/p: hypotonia with subsequent developmental delay • Reduce muscles bulk, slender body build &long narrow face • Skeletal abnormalities: high arched palate ,pectus exacavitum, kyphscliosis, dislocated hip, pes cavus) • Absent or reduced muscle stretch reflex • Weakness: limb girdle mostly, but distal weakness exist • CK &EMG may be normal • Muscle biopsy: the diagnostic method

  12. Metabolic myopathy • Glucose/glycogen metabolism • Fattay acid metabolism • mitochondrial

  13. Calf Pseudohypertrophy

  14. Gowers' Sign “Climbing up himself”

  15. Gowers’ sign always denotes proximal muscle weakness

  16. Common Features:  Clinical: Muscle weakness: main feature Gower’s sign (proximaly dominating deficit) Contractures +/- severe: advanced stages Pain: in inflamm. Disorders only Atrophy (+/- pseudohypertrophy in X-linked) Deformity: advanced disease DTR: normal, diminished or absent Tone: slightly or normal Other systems may be involved

  17. Common Features:  Laboratory Investigations: • CBC, LFT.. Normal • ESR: high in inflammatory only • U&E: abnormalities in some endocrinopathies and periodic paralysis • C.K & aldolase: generaly: raised (normal in few sittings: metabolic, endocrine…) • Lactic acid • Genetic study: location & type of chromozomal abnormalities:

  18. Common Features:  Neurophysiology • NCS: normal • EMG: • Spontaneous activities +/- in inflammatory disorders • Interferential tracing • MUPs:  small A  Short D • polyphsics

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