Rett Syndrome


Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome

Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use

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

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)