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Congenital Myopathies

  1. Myotubular myopathy
  2. Congenital Muscle Fiber Type Disporportion (CMFTD)
  3. Nemaline Rod Myopahy
  4. Central Core Disease – AD, associated with malignant hyperthermiaQ 

They all have some features in common

  1. Decreased fetal movement are perceived in late gestation
  2. Poly hydramnios is a common complication because of pharyngeal weakness of the fetus and inability to swallow amniotic fluid.
  3. At birth affected infants have a thin muscle mass and generalized hypotonia
  4. Diagnosed by muscle biopsy

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