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