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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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muscles disorders
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
etiology classification
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

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Acquired myopathies

Inflammatory myopathies

Acquired metabolic myopathies

Toxic myopathies

weakness
Weakness
  • 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
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
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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
gowers sign
Gowers\' Sign

“Climbing up himself”

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Gowers’ sign

always denotes

proximal

muscle

weakness

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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