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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

Approach to myopathy

Dromidyaghini


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



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


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



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


  • 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”


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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