Rett Syndrome [Rettův syndrom]

topical
52
Terms

Rettova choroba

 

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

Persistent link   https://www.medvik.cz/link/D015518
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)

DUI
D015518 MeSH Browser
CUI
M0023877
Previous indexing
Mental Retardation (1983-1989); Movement Disorders (1986-1989)
History note
90
Public note
90

C Diseases
C10.597.606.360 Intellectual Disability 1 045
C10.597.606.360.455 X-Linked Intellectual Disability 17
C10.597.606.360.455.124 Adrenoleukodystrophy 41
C10.597.606.360.455.249 Coffin-Lowry Syndrome
C10.597.606.360.455.500 Fragile X Syndrome 62
C10.597.606.360.455.562 Glycogen Storage Disease Type IIb 11
C10.597.606.360.455.625 Lesch-Nyhan Syndrome 20
C10.597.606.360.455.687 Menkes Kinky Hair Syndrome 12
C10.597.606.360.455.750 Mucopolysaccharidosis II 25
C10.597.606.360.455.937 Rett Syndrome 52
C16.320.322.500.124 Adrenoleukodystrophy 41
C16.320.322.500.249 Coffin-Lowry Syndrome
C16.320.322.500.500 Fragile X Syndrome 62
C16.320.322.500.625 Lesch-Nyhan Syndrome 20
C16.320.322.500.687 Menkes Kinky Hair Syndrome 12
C16.320.322.500.750 Mucopolysaccharidosis II 25
C16.320.322.500.937 Rett Syndrome 52
C16.320.400.525.124 Adrenoleukodystrophy 41
C16.320.400.525.249 Coffin-Lowry Syndrome
C16.320.400.525.500 Fragile X Syndrome 62
C16.320.400.525.625 Lesch-Nyhan Syndrome 20
C16.320.400.525.687 Menkes Kinky Hair Syndrome 12
C16.320.400.525.750 Mucopolysaccharidosis II 25
C16.320.400.525.937 Rett Syndrome 52

Rett Syndrome, Atypical Disease MeSH Browser

Rett Syndrome, Preserved Speech Variant Disease MeSH Browser

Rett Syndrome, Zappella Variant Disease MeSH Browser