Congenital myopathy

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  1. What is congenital myopathy?
    A group of disorders with somewhat similar phenotype course. The group is characterized by weakness at birth or shortly thereafter. The course of progression is relatively stabile and or slowly progressive. Development gains are typical early in the disease, growth and weight inhibits the gross motor progression secondary to weakness and contractures.
  2. Physical characteristics of Congenital myopathy?
    Winging of capulae and wasting of shoulder girdle, good trophic appearance of pelvic girdle and congenital deformity of hands with failure to completely extend the fingers on voluntary attempt.
  3. Nemaline myopathy?
    • Most common type of Congenital myopathy occurring in 2 per 100,000 births. 
    • heterogeneous disease, either autosomal dominant or recessive
    • more than 5 types identified
    • typically presents in infancy
  4. What is nemaline myopathy characterized by?
    hypotonia, feeding difficulties, aspiration, respiratory insufficiency, contractures, spinal rigidity, weakness of extremities, lack of flexibility of trunk.
  5. Central core disease?
    • Inherited as recessive or dominant
    • interference in the protein that controls the calcium release channels
    • affects the process of the excitation-contracture
    • typically presents in infancy, but can present later
    • CK levels normal or mildly elevated
    • congenital hip dislocation, scoliosis, talipes equinovarus, at risk for malignant hyperthermia (life threatening reaction to anesthetics)
  6. Multicore-minicore disease?
    • inherited recessively, can have the same mutation as central cord
    • diagnosed via muscle biopsy
    • occurs in type I fibers and lacks oxidative enzyme activity
    • 4 groups identified
  7. What are 4 groups of multicore-minicore diseases characterized by?
    proximal weakness, scoliosis, pulmonary insufficiency, distal joint laxity, myopia, severe facial weakness, arthrogryposis.
  8. Myotubular (centronuclear) myopathy?
    • X-linked, very variable
    • severe neonatal causes death; many don't make is past 1 year; milder form can survive into adulthood
    • severe upper respiratory involvement
  9. Medical diagnosis of congenital myopathy?
    • Clinical exam: DTRs, UMN signs, congnitive status
    • if peripheral involvement is suspected an EMG is performed to differentiate between myogenic and neurogenic
    • muscle biopsy
    • genetic testing.
  10. PT interventions of CM?
    • Primarily symptomatic
    • management of contractures
    • maintaining function
    • motor cardiac function
  11. Prognosis and outcome of CM?
    Variable depending on the diagnosis and severity
Card Set
Congenital myopathy
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