Rett Syndrome
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)
Year introduced: 1990
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Subheadings:
Tree Number(s): C10.597.606.360.455.937, C16.320.322.500.937, C16.320.400.525.937
MeSH Unique ID: D015518
Entry Terms:
- Syndrome, Rett
- Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
- Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
- Rett's Syndrome
- Retts Syndrome
- Syndrome, Rett's
- Rett Disorder
- Rett's Disorder
- Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
- Cerebroatrophic Hyperammonemia
- Cerebroatrophic Hyperammonemias
- Hyperammonemia, Cerebroatrophic
- Hyperammonemias, Cerebroatrophic
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