Presentation
Hypotonia is present from early childhood. Acronym ATCAY Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
[…] on Grand Cayman Island Genetics associated with defects in caytaxin gene Clinical-manifestations marked psychomotor retardation prominent nonprogressive cerebellar dysfunction nystagmus intention tremor dysarthria wide-based ataxic gait hypotonia is present [anvita.info]
She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society. [books.google.com]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Entire Body System
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Movement Disorder
In addition, he established the Rush Movement Disorder Surgery Program and serves as its Medical Director. His clinical research interests include the development of new medical and surgical therapies for patients with advanced movement disorders. [books.google.com]
Category Nervous system disease Brite Human diseases [BR: br08402 ] Nervous system diseases Neurodegenerative diseases H01038 Cerebellar ataxia cayman type Human diseases in ICD-11 classification [BR: br08403 ] 08 Diseases of the nervous system Movement [genome.jp]
If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. Nerve diseases cause many ... [medicbind.com]
Type 1D Chain498 Dejerine-Sottas Neuropathy Chain536 Dopamine Beta Hydroxylase Deficiency Chain540 Dysautonomia, Familial Chain603 Episodic Ataxia, Type 2 Chain607 Erythermalgia, primary Chain612 Excessive Daytime Sleepiness Chain615 Extrapyramidal Movement [sequencing.com]
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Amyloidosis
[…] with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Synonym(s): - Cayman ataxia Classification [csbg.cnb.csic.es]
Chain326 Cerebellar Ataxia, Cataracts, and Diabetes Mellitus Chain327 Cerebellar Ataxia, Cayman Type Chain328 Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Chain329 Cerebral cavernous malformations Chain330 Cerebroarterial Amyloidosis [sequencing.com]
Musculoskeletal
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Short Arm
Figure 3 Location of the linked markers on the short arm of chromosome 19. Recombination distances are shown in centimorgans. [academic.oup.com]
Psychiatrical
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Psychomotor Retardation
From Wikidata Jump to navigation Jump to search Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated [wikidata.org]
Term Name: Cayman type cerebellar ataxia Search Ontology: Synonyms: Cayman cerebellar ataxia Definition: A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention [zfin.org]
From Epidemiology found in a population isolate on Grand Cayman Island Genetics associated with defects in caytaxin gene Clinical-manifestations marked psychomotor retardation prominent nonprogressive cerebellar dysfunction nystagmus intention tremor [anvita.info]
retardation and prominent nonprogressive cerebellar dysfunction (nystagmus), intention tremor, dysarthria, and wide-based ataxic gait. [medical-dictionary.thefreedictionary.com]
Neurologic
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Ataxia
[…] with cerebellar hypoplasia Cayman cerebellar ataxia ATCAY CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY CEREBELLAR ATAXIA, CAYMAN TYPE Cayman ataxia edit English Cayman type cerebellar ataxia Cerebellar ataxia, Cayman type is characterised by psychomotor retardation [wikidata.org]
BNIP-2-homology, Cayman ataxia, ataxia cayman type protein, caytaxin, hesitant, jittery GENE ID SPECIES 85300 Homo sapiens 16467 Mus musculus Selected quality suppliers for Ataxia, Cerebellar, Cayman Type Proteins (ATCAY) Did you look for something [antibodies-online.com]
Term Name: Cayman type cerebellar ataxia Search Ontology: Synonyms: Cayman cerebellar ataxia Definition: A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention [zfin.org]
« Cerebellar ataxia, cayman type Back to: « Cerebellar ataxia Disease Articles Ataxia : Ataxia is a disorder of movement and coordination. [familydiagnosis.com]
There is an observed involvement in Cerebellar ataxia, cayman type. Homologs have been identified in the following species: Mouse, Rat, Frog, Chicken. ataxia, cerebellar, Cayman type may also be known by other names: BNIP-H; Cayman ataxia; caytaxin. [biocompare.com]
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Cerebellar Ataxia
[…] with cerebellar hypoplasia Cayman cerebellar ataxia ATCAY CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY CEREBELLAR ATAXIA, CAYMAN TYPE Cayman ataxia edit English Cayman type cerebellar ataxia Cerebellar ataxia, Cayman type is characterised by psychomotor retardation [wikidata.org]
Term Name: Cayman type cerebellar ataxia Search Ontology: Synonyms: Cayman cerebellar ataxia Definition: A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention [zfin.org]
Autosomal recessive Cayman cerebellar ataxia definition of autosomal recessive Cayman cerebellar ataxia by Medical dictionary (redirected from autosomal recessive Cayman cerebellar ataxia ) cerebellar ataxia, Cayman type An autosomal recessive condition [medical-dictionary.thefreedictionary.com]
« Cerebellar ataxia, cayman type Back to: « Cerebellar ataxia Disease Articles Ataxia : Ataxia is a disorder of movement and coordination. [familydiagnosis.com]
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Nystagmus
From Wikidata Jump to navigation Jump to search Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated [wikidata.org]
Nystagmus MedGen UID: 45166 • Concept ID: C0028738 • Disease or Syndrome Involuntary movements of the eye that are divided into two types, jerk and pendular. [ncbi.nlm.nih.gov]
Term Name: Cayman type cerebellar ataxia Search Ontology: Synonyms: Cayman cerebellar ataxia Definition: A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention [zfin.org]
From Epidemiology found in a population isolate on Grand Cayman Island Genetics associated with defects in caytaxin gene Clinical-manifestations marked psychomotor retardation prominent nonprogressive cerebellar dysfunction nystagmus intention tremor [anvita.info]
Cayman type An autosomal recessive condition (OMIM:601238) seen in a population isolated on the Grand Cayman Island, which is characterised by early-onset hypotonia, marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction (nystagmus [medical-dictionary.thefreedictionary.com]
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Tremor
More on Gait ataxia » Intention tremor : Summary : A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs 3 ... ... [familydiagnosis.com]
From Wikidata Jump to navigation Jump to search Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated [wikidata.org]
Intention tremor MedGen UID: 892758 • Concept ID: C4020856 • Finding A type of kinetic tremor that occurs during target directed movement is called intention tremor. [ncbi.nlm.nih.gov]
Cayman type cerebellar ataxia Search Ontology: Synonyms: Cayman cerebellar ataxia Definition: A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor [zfin.org]
From Epidemiology found in a population isolate on Grand Cayman Island Genetics associated with defects in caytaxin gene Clinical-manifestations marked psychomotor retardation prominent nonprogressive cerebellar dysfunction nystagmus intention tremor [anvita.info]
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Dysarthria
More on Nervous System Disorders » Dysarthria : Dysarthria - group of speech disorders caused by disturbances in the strength or coordination of the muscles of the speech mechanism as a result of damage to the brain or nerves 1 ... ... [familydiagnosis.com]
[…] type cerebellar ataxia Search Ontology: Synonyms: Cayman cerebellar ataxia Definition: A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria [zfin.org]
From Epidemiology found in a population isolate on Grand Cayman Island Genetics associated with defects in caytaxin gene Clinical-manifestations marked psychomotor retardation prominent nonprogressive cerebellar dysfunction nystagmus intention tremor dysarthria [anvita.info]
[…] recessive condition (OMIM:601238) seen in a population isolated on the Grand Cayman Island, which is characterised by early-onset hypotonia, marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction (nystagmus), intention tremor, dysarthria [medical-dictionary.thefreedictionary.com]
Workup
Serum
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Dyslipidemia
Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status [books.google.com]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
PMID: 15732118 Prognosis Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM Ann Neurol 2005 Mar;57(3):349-54. doi: 10.1002/ana.20371. [ncbi.nlm.nih.gov]
[…] or physiotherapy (often abbreviated to PT) is a physical medicine and rehabilitation specialty that, by using mechanical force and movements, remediates impairments and promotes mobility, function, and quality of life through examination, diagnosis, prognosis [stemcelltreatmentnow.com]
Available data on genotype-phenotype correlation suggest that currently available DNA tests cannot accurately predict age of onset or prognosis. [jamanetwork.com]
Cardiomyopathy is a cardinal feature of Friedreich’s ataxia and detrimentally affects prognosis commonly, with early death secondary to heart failure or fatal arrhythmia. [neupsykey.com]
Etiology
Etiology The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin. The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology Ann Neurol 2005 Mar;57(3):349-54. doi: 10.1002/ana.20371. PMID: 15732118 Prognosis Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM Ann Neurol 2005 Mar;57(3):349-54. doi: 10.1002/ana.20371. [ncbi.nlm.nih.gov]
Epidemiology
From Epidemiology found in a population isolate on Grand Cayman Island Genetics associated with defects in caytaxin gene Clinical-manifestations marked psychomotor retardation prominent nonprogressive cerebellar dysfunction nystagmus intention tremor [anvita.info]
[…] amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Synonym(s): - Cayman ataxia Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]
ORPHA:94122 Synonym(s): Cayman ataxia Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: - ICD-10: G11.0 OMIM: 601238 UMLS: C1832585 MeSH: - GARD: - MedDRA: - Summary Epidemiology The prevalence is unknown, but the disorder is very rare [orpha.net]
Pathophysiology
Stage 1 is asymptomatic and largely undetectable, despite underlying pathophysiologic processes. [neurologyadvisor.com]
Pathophysiological clues for many of the inherited ataxias are known. [neupsykey.com]
"Pathophysiology of cerebellar ataxia". Movement Disorders. 7 (2): 95–109. doi : 10.1002/mds.870070202. PMID 1584245. Multiple System Atrophy differential at eMedicine Manto, Mario; Marien, Peter (2015). [en.wikipedia.org]
Several classifications have been proposed so far, using clinical, neuroimaging, genetic and pathophysiologic data 2. In this review, a pathophysiological classification is used ( Table 1 ). [scielo.br]
Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.com]
Prevention
/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% When you [medicbind.com]
Refsum’s disease is one that is of importance because early diagnosis and intervention can prevent neurological manifestations. [neupsykey.com]
We combine our PT with stem cells for maximum physical rehabilitation … read more read more Nerve Growth Factor (NGF) Nerve growth factor (NGF) is a member of the neurotrophic factor (neurotrophin, NTFS) family, which can prevent the death of nerve cells [stemcelltreatmentnow.com]