Presentation
ORPHA:94122 Classification level: Disorder Synonym(s): Cayman ataxia Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: - ICD-10: G11.0 OMIM: 601238 UMLS: C1832585 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]
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]
Numerous factors impact on the prognosis of acute myeloid leukemia (AML), among which molecular genetic abnormalities are… We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray… Caytaxin [semanticscholar.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]
Neurologic
- Broad-Based Gait
[from OMIM] Show allHide all Abnormality of the eye Nystagmus Abnormality of the musculoskeletal system Generalized hypotonia Hypotonia Abnormality of the nervous system Broad-based gait Dysarthria Gait ataxia Global developmental delay Intention tremor [ncbi.nlm.nih.gov]
Treatment
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]
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]
Prognosis
Numerous factors impact on the prognosis of acute myeloid leukemia (AML), among which molecular genetic abnormalities are… We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray… Caytaxin [semanticscholar.org]
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]
The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. [nectarmutation.org]
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]
This helps avoid repeated freeze-thaw cycles, as well as prevent loss of virus. To maintain accurate titer, aliquot in at least 20ul per tube. [vectorbiolabs.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]