Nonprogressive Cerebellar Ataxia: Causes & Reasons

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Possible Causes for Nonprogressive Cerebellar Ataxia

X-Linked Sideroblastic Anemia and Ataxia

In contrast to pyridoxine-responsive sideroblastic anemia, the ABC7 defect has a nonprogressive cerebellar ataxia component with diminished deep-tendon reflexes, incoordination [emedicine.medscape.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]

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]

Infantile-Onset Autosomal Recessive Non-Progressive Cerebellar Ataxia

[…] progressive ataxia with ophthalmoparesis SCA29 3p26 Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia. [bcm.edu]

[…] 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]

X-Linked Spinocerebellar Ataxia Type 5

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]

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]

Spastic Ataxia with Congenital Miosis

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]

Adult-Onset Autosomal Recessive Cerebellar Ataxia

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]

Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

[…] degeneration syndrome Infantile onset spinocerebellar ataxia Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Joubert syndrome Joubert syndrome and related [se-atlas.de]

[…] neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological [mendelian.co]

Autosomal Recessive Spinocerebellar Ataxia

[…] 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]

Autosomal Dominant Spastic Ataxia Type 1

[…] progressive ataxia with ophthalmoparesis SCA29 3p26 Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia. [bcm.edu]

Early-Onset Cerebellar Ataxia

G110Congenital nonprogressive ataxia G111Early-onset cerebellar ataxia G112Late-onset cerebellar ataxia G113Cerebellar ataxia with defective DNA repair G114Hereditary spastic [cms.gov]

G11 Hereditary ataxia Excludes2 cerebral palsy ( G80 .-) hereditary and idiopathic neuropathy ( G60 .-) metabolic disorders ( E70 - E88 ) G11.0 Congenital nonprogressive ataxia [icd10coded.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]

Autosomal Recessive Spinocerebellar Ataxia 18

[…] 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]

cerebellar ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening [ajnr.org]

G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary [icd10data.com]

Spinocerebellar Ataxia Type 30

[From OMIM:147265, 2015.12.15] Disease synonyms SCA29 cerebellar ataxia, congenital nonprogressive, autosomal dominant CNPCA cerebellar vermis aplasia aplasia of cerebellar [flybase.org]

Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. [flybase.org]

Cerebellar Ataxia - Mental Retardation - Dysequlibrium Syndrome

CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar [ncbi.nlm.nih.gov]

Clinical description DES is a congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed [orpha.net]

Definition Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar [rarediseases.info.nih.gov]

Davis-Lafer Syndrome

cerebellar ataxia with mental retardation Noonan Like Syndrome + Noonan syndrome + Norman-Roberts syndrome Novak Syndrome O'Donnell Pappas Syndrome Obesity Hypoventilation [rgd.mcw.edu]

Syndrome Non Ketotic Hyperglycinemia Syndrome Non-Lissencephalic Cortical Dysplasia non-syndromic intellectual disability + Nonkeratan-Sulfate-Excreting Morquio Syndrome nonprogressive [rgd.mcw.edu]

Roy-Maroteaux-Kremp Syndrome

cerebellar ataxia with mental retardation Noonan Like Syndrome + Noonan syndrome + Norman-Roberts syndrome Novak Syndrome O'Donnell Pappas Syndrome Obesity Hypoventilation [rgd.mcw.edu]

3-Methylglutaconic Aciduria Type 5

Description Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems. Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a[…] [medlineplus.gov]

Cerebellar Hypoplasia and Atrophy

Background Nonprogressive cerebellar ataxias are characterized by a persistent, nonprogressive ataxia associated with cognitive impairment. [jamanetwork.com]

[…] atrophy MATERIALS AND METHODS: Fifteen children with cerebellar ataxia and pontocerebellar hypoplasia, nonprogressive cerebellar hypoplasia or progressive cerebellar atrophy [arpi.unipi.it]

MATERIALS AND METHODS: Fifteen children with cerebellar ataxia and pontocerebellar hypoplasia, nonprogressive cerebellar hypoplasia or progressive cerebellar atrophy and 7 [ncbi.nlm.nih.gov]

Tollner-Horst-Manzke Syndrome

cerebellar ataxia with mental retardation Noonan Like Syndrome + Noonan syndrome + Norman-Roberts syndrome Novak Syndrome O'Donnell Pappas Syndrome Obesity Hypoventilation [rgd.mcw.edu]

Congenital Disorder of Glycosylation Type 2I

At this stage of development, individuals with PMM2-CDG exhibit stable (nonprogressive) cerebellar ataxia and varying degrees of peripheral neuropathy. [rarediseases.org]

In adults, nonprogressive ataxia, stable mental retardation, and peripheral neuropathy mainly characterize the disease. [nature.com]

At a later age, the impairment of the neurologic system becomes more evident with a variable degree of mental retardation, cerebellar dysfunction, and retinitis pigmentosa [nature.com]

Alacrima - Achalasia - Mental Retardation

cerebellar ataxia with mental retardation Noonan syndrome with multiple lentigines + Norman-Roberts syndrome Novak Syndrome O'Donnell Pappas Syndrome O'Donnell-Luria-Rodan [rgd.mcw.edu]

Syndrome Noble Bass Sherman Syndrome Nodding Syndrome Non Ketotic Hyperglycinemia Syndrome non-syndromic intellectual disability + Nonkeratan-Sulfate-Excreting Morquio Syndrome nonprogressive [rgd.mcw.edu]

Galloway-Mowat Syndrome Type 6

[…] atrophy in Galloway-Mowat syndrome. 61 6 Steiss JO...Hahn A 16217710 2005 6 CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant [malacards.org]

[…] responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 61 6 Colin E...Antignac C 25466283 2014 5 Late-onset nephrotic syndrome and severe cerebellar [malacards.org]

Kasznica-Carlson-Coppedge Syndrome

cerebellar ataxia with mental retardation Noonan Like Syndrome + Noonan syndrome + Norman-Roberts syndrome Novak Syndrome O'Donnell Pappas Syndrome Obesity Hypoventilation [rgd.mcw.edu]

Galloway-Mowat Syndrome Type 5

Hereditary Cerebellar Degeneration

G11 Hereditary ataxia Excludes2 cerebral palsy ( G80 .-) hereditary and idiopathic neuropathy ( G60 .-) metabolic disorders ( E70 - E88 ) G11.0 Congenital nonprogressive ataxia [icd10coded.com]

Convert to ICD-10-CM : 334.2 converts approximately to: 2015/16 ICD-10-CM G11.0 Congenital nonprogressive ataxia Or: 2015/16 ICD-10-CM G11.2 Late-onset cerebellar ataxia Applies [icd9data.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]

Cognitive Impairment - Cerebellar Ataxia

Abstract Objective: To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia. [neurology.org]

Methods: The authors studied 11 patients with nonprogressive congenital ataxia (NPCA) with Wechsler’s intelligence testing, with additional tests of attention, memory, language [neurology.org]

Background: Growing interest in cerebellar function has prompted closer attention to cognitive impairments in patients with cerebellar damage. [neurology.org]

Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy

SPINOCEREBELLAR ATAXIA 29; SCA29 Is also known as cerebellar ataxia, congenital nonprogressive, autosomal dominant;cnpca, cerebellar vermis aplasia, aplasia of cerebellar [mendelian.co]

ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive [mendelian.co]

Galloway-Mowat Syndrome Type 4

Autosomal Dominant Congenital Nystagmus Type 4

Abstract Background: Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and etiology. [neurology.org]

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Isolated dystonia Joubert syndrome [se-atlas.de]

[…] progressive ataxia with ophthalmoparesis SCA29 3p26 Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia. [bcm.edu]