Rett Syndrome

Overview

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Is a:

Disease or Syndrome

Definition:

An inherited neurological developmental disorder that is associated with x-linked inheritance and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ataxia; seizures; autistic behavior; intermittent hyperventilation; and hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Synonyms:

Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia
Cerebroatrophic Hyperammonemias
Hyperammonemia, Cerebroatrophic
Hyperammonemias, Cerebroatrophic
Rett Disorder
Rett's Disorder
Rett's Syndrome
Retts Syndrome
Syndrome, Rett
Syndrome, Rett's

Broader Topics:

Narrower Topics:

None

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