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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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Approach to myopathy

Approach to myopathy


Muscles disorders



  • Diseases involving the muscle fibers (myogenic)

  • Unlike: neuronopathies: secondary to LMN

  • Heterogenous etiology, genotype, phenotype…

  • No specific treatment for most of them

Myoblasts fusing to form large multi nucleate muscle cells

Myoblasts fusing to form large multi-nucleate muscle cells

White fast speed red slow endurance

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

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

Approach to myopathy

  • Acquired myopathies

    Inflammatory myopathies

    Acquired metabolic myopathies

    Toxic myopathies



  • Constant fluctuation

  • Longlife acquired MG

    periodic P

  • metabolic

  • Progressive static

  • Dystrophy congenital

Muscular dystrophy

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

Approach to myopathy


Congenital myopathy

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

Approach to myopathy

  • 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

Metabolic myopathy

Metabolic myopathy

  • Glucose/glycogen metabolism

  • Fattay acid metabolism

  • mitochondrial

Calf pseudohypertrophy

Calf Pseudohypertrophy

Gowers sign

Gowers' Sign

“Climbing up himself”

Approach to myopathy

Gowers’ sign

always denotes




Common features

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

Common features1

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:

Common features2

Common Features:

 Neurophysiology

  • NCS: normal

  • EMG:

    • Spontaneous activities +/- in inflammatory disorders

    • Interferential tracing

    • MUPs: small A

       Short D

      • polyphsics

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