Congenital Non-Progressive Ataxia
Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia.[ncbi.nlm.nih.gov]
Background: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia.[doi.org]
[…] bilateral partial cerebellar ataxia with hypotonia.[whonamedit.com]
Dysequilibrium Syndrome
Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[ncbi.nlm.nih.gov]
BACKGROUND: Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[ncbi.nlm.nih.gov]
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[ncbi.nlm.nih.gov]
Spinocerebellar Ataxia Type 15
CONCLUSION: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter [2] .[wikigenes.org]
Thus, SCA15 and SCA29 are genetically identical disorders showing very slowly progressive or pure nonprogressive cerebellar ataxia (NPCA).[link.springer.com]
SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein.[eprints.kingston.ac.uk]
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
[…] atrophy Spinocerebellar ataxia 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent[emedicine.medscape.com]
[…] progressive ataxia with ophthalmoparesis SCA29 3p26 Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia.[bcm.edu]
An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome. J Child Neurol 1991 ; 6 : 20 –3. Imamura S , Tachi N, Oya K.[jmg.bmj.com]
X-Linked Spinocerebellar Ataxia Type 5
[…] atrophy Spinocerebellar ataxia 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent[emedicine.medscape.com]
An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome. J Child Neurol 1991 ; 6 : 20 –3. Imamura S , Tachi N, Oya K.[jmg.bmj.com]
cerebellar ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening[ajnr.org]
Early-Onset Cerebellar Ataxia
An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome. J Child Neurol 1991 ; 6 : 20 –3. Imamura S , Tachi N, Oya K.[jmg.bmj.com]
G11 Hereditary ataxia Excludes2 cerebral palsy ( G80 .-) hereditary and idiopathic neuropathy ( G60 .-) metabolic disorders ( E70 - E88 ) G11.0 Congenital nonprogressive ataxia[icd10coded.com]
G110Congenital nonprogressive ataxia G111Early-onset cerebellar ataxia G112Late-onset cerebellar ataxia G113Cerebellar ataxia with defective DNA repair G114Hereditary spastic[cms.gov]
Adult-Onset Autosomal Recessive Cerebellar Ataxia
[…] atrophy Spinocerebellar ataxia 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent[emedicine.medscape.com]
Heritability: Autosomal recessive inheritance Clinical Modifiers: Nonprogressive, Infantile onset AKA: SCAR2, Autosomal recessive spinocerebellar ataxia type 2, Cerebellar[monarchinitiative.org]
cerebellar ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening[ajnr.org]
Spastic Ataxia with Congenital Miosis
[…] atrophy Spinocerebellar ataxia 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent[emedicine.medscape.com]
With Dementia Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome Infection or Post Infection Ataxia Infantile-onset Autosomal Recessive Nonprogressive[explorer.opentrials.net]
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Infectious disease of the nervous system Infectious encephalitis Inherited Creutzfeldt-Jakob disease[se-atlas.de]
Autosomal Recessive Spinocerebellar Ataxia
[…] atrophy Spinocerebellar ataxia 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent[emedicine.medscape.com]
[…] skin abnormalities), a rare nonprogressive cerebellar ataxia syndrome, originally identified in a Lebanese family [ 1 ] and caused by a mutant zinc finger protein, ZNF592[karger.com]
The Ulas family featured in the 2006 BBC and NOVA documentary, The Family That Walks On All Fours have nonprogressive congential cerebellar ataxia that led them to walk with[psychology.wikia.com]
Autosomal Dominant Spastic Ataxia Type 1
[…] atrophy Spinocerebellar ataxia 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent[emedicine.medscape.com]
[…] progressive ataxia with ophthalmoparesis SCA29 3p26 Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia.[bcm.edu]
The Ulas family featured in the 2006 BBC and NOVA documentary, The Family That Walks On All Fours have nonprogressive congential cerebellar ataxia that led them to walk with[psychology.wikia.com]