Rett syndrome

  • Sporadic disorder seen almost exclusively in girls (affected males die in utero or shortly after birth).
  • Most cases are caused by de novo mutation of MECP2 on X chromosome. Symptoms of Rett syndrome usually appear between ages 1–4 and are characterized by regression (Retturn) in motor, verbal, and cognitive abilities; ataxia; seizures; growth failure; and stereotyped handwringing.

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