Presentation
Kerber's current research focus is using health services research approaches to optimize patient care and health care utilization for dizziness presentations. [books.google.de]
He presented gaze-evoked nystagmus in all directions. His Mini-Mental State Examination score was 30. [synapse.koreamed.org]
Of the different hereditary ataxias present in Cuba, spinocerebellar ataxia type 2 (SCA2) is the most prevalent molecular type. [scinapse.io]
These patients present with gait ataxia usually with headache and papilledema. Progressive hydrocephalus can also present with subacute-onset ataxia. [jpgmonline.com]
Acronym SCAR18 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Entire Body System
- Difficulty Walking
In addition, the Extended Disability Status Scale was used; this scale may be insensitive to gait changes in patients with difficulty walking. [movementdisorders.org]
Cardiovascular
- Hypertension
Hydrocephalus ( Normal pressure ) - Idiopathic intracranial hypertension Encephalopathy - Brain herniation - Cerebral edema - Reye's - Syringomyelia - Syringobulbia - Spinal cord compression de:Spinozerebelläre Ataxie it:Atassia spinocerebellare th [wikidoc.org]
No hypertension. Fanconi's Syndrome Type I (Child-onset cystinosis) Renal Autosomal Recessive. [kumc.edu]
[…] macula, RNFL thickening extends over the fovea and can obscure the foveal pit. 31 RNFL thickening is not seen in the context of any other chronic progressive neurodegenerative diseases, only in cases of optic disc swelling associated with intracranial hypertension [acnr.co.uk]
- Mitral Valve Prolapse
Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse. Neurofibromatosis (Von Recklinghausen Disease) Autosomal Dominant Disorders Autosomal Dominant. [kumc.edu]
Although mitral valve prolapse was described in the original cases of ARSACS, 2 this finding has not been replicated in subsequent studies of families outside Québec. [acnr.co.uk]
Musculoskeletal
- Arthritis
Urine turns dark and black on standing, ochronosis (dark pigmentation of fibrous and cartilage tissues), ochronotic arthritis, cardiac valve involvement. Disease is generally benign. Homocystinuria Nitrogen Metabolism Defect Autosomal Recessive. [kumc.edu]
Eyes
- Prolapse
Arachnodactyly, dissecting aortic aneurysms, ectopia lentis (subluxation of lens), mitral valve prolapse. Neurofibromatosis (Von Recklinghausen Disease) Autosomal Dominant Disorders Autosomal Dominant. [kumc.edu]
Although mitral valve prolapse was described in the original cases of ARSACS, 2 this finding has not been replicated in subsequent studies of families outside Québec. [acnr.co.uk]
- Visual Impairment
There are at least 5 forms of ARCA associating cerebellar ataxia with visual impairment: (i) CAMOS (cerebellar ataxia associated with mental retardation, optic atrophy and skin abnormalities), a rare nonprogressive cerebellar ataxia syndrome, originally [karger.com]
Neurologic
- Ataxia
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 18, is also known as scar18, and has symptoms including cerebellar ataxia, dysdiadochokinesis and ataxia, truncal. [malacards.org]
[…] onset cerebellar ataxia Friedreich's ataxia Friedreichs ataxia Josephs disease Lumbar neuromuscular scoliosis due to friedreich's ataxia Lumbar scoliosis due to friedreichs ataxia Lumbosacral neuromuscular scoliosis due to friedreich's ataxia Lumbosacral [icd10data.com]
Autosomal dominant ataxias include the spinocerebellar ataxias and episodic ataxias. Spinocerebellar ataxias (SCA) represent the most common form of chronic progressive ataxia in adults. [bcm.edu]
There are five typical autosomal recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia. [wikidoc.org]
Ataxias cerebelares hereditárias: do martelo ao gen Hereditary cerebellar ataxias from neurological hammer to genetics Walter Oleschko Arruda I ; Hélio A. [scielo.br]
- Cerebellar Ataxia
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 18, is also known as scar18, and has symptoms including cerebellar ataxia, dysdiadochokinesis and ataxia, truncal. [malacards.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 spastic paraplegia G11.8 Other hereditary ataxias G11.9 Hereditary ataxia [icd10data.com]
Abstract Objective: To report the clinical findings and the genetic linkage mapping of an autosomal recessive cerebellar ataxia associated to peripheral neuropathy, showing an early onset cerebellar ataxia with retained tendon reflexes (EOCA) phenotype [neurology.org]
Nucleotide expansion disorders are a common cause of dominantly inherited cerebellar ataxia. [els.net]
- Nystagmus
His ranges of extraocular movement were full in all directions, and he did not exhibit OMA on reflexive saccades testing, but his optokinetic nystagmus was impaired. He presented gaze-evoked nystagmus in all directions. [synapse.koreamed.org]
Interictal nystagmus or mild ataxia. Provoked by exercise and stress not startle. ½ pts have headache. [slideshare.net]
Clinical Characteristics Ocular Features: Ocular signs in SCAR18 include nystagmus, oculomotor apraxia, and optic atrophy. The nystagmus may be rotatory or horizontal and can be gaze-evoked. Some patients have intermittent and tonic upgaze. [disorders.eyes.arizona.edu]
Patients have ataxia along with spasticity, speech problems, nystagmus, weakness of lower extremities, and sensory problems. [bcm.edu]
Neurological examination showed bilateral horizontal gaze-evoked nystagmus, ocular dysmetria and dysarthria; severe gait ataxia associated with less prominent truncal and appendicular ataxia. [scielo.br]
- Dystonia
Our primary focus is on genetic mutations causing ataxias but also includes other conditions such as learning disability, dystonia and other movement disorders, epilepsy and spasticity. [ndcn.ox.ac.uk]
COPPER-REPLACEMENT RESPONSIVE OCCIPITAL HORN SYNDROME Copper Atpase 2 (L62/29) WILSON DISEASE Dardarin/LRRK2 (N138/6) PARKINSON DISEASE 8 SUSCEPTIBILITY TO PARKINSON DISEASE Dicer (N167/7) PLEUROPULMONARY BLASTOMA Dopamine D2 receptor (N186/29) MYOCLONUS-DYSTONIA [neuromab.ucdavis.edu]
The common features of SCA3, which is the most common subtype and called Machado-Joseph disease, are parkinsonism, dystonia, faciolingual myokymia and bulging eyes [ 16, 25 ]. SCA6 is a pure cerebellar syndrome. [e-jmd.org]
Dystonia in spinocerebellar ataxia type 6. Mov Disord 2002;17:150-153. [ Links ] 20. Basri R, Yabe I, Soma H, Sasaki H. [scielo.br]
Dementia, dystonia, parkinsonism, chorea, nystagmus, slow saccades, and visual loss can all occur depending on the type and severity of the SCA. [clinicaladvisor.com]
- Spastic Paraplegia
External links[edit] Spastic Paraplegia Foundation [en.wikipedia.org]
The following search terms were used: ‘cerebellar ataxia', ‘spinocerebellar ataxia', ‘spinocerebellar degeneration', ‘hereditary ataxia', ‘Strumpell-Lorrain', ‘spastic paraplegia', ‘hereditary spastic paraplegia', ‘epidemiology' and ‘prevalence'. [karger.com]
EEF2 Spinocerebellar ataxia AD 1 2 ELOVL4 Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia AD/AR 13 14 ELOVL5 Spinocerebellar ataxia AD 2 5 FA2H Spastic paraplegia AR 18 51 FBXL4 Mitochondrial DNA depletion [blueprintgenetics.com]
The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]
Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy X,XR,XD,G 99.98 NA of NA [igenomix.es]
Treatment
To identify relevant publications, a PubMed search using the terms “treatments of cerebellar ataxias,” “degenerative cerebellar ataxia treatment,” and “treatment of hereditary cerebellar ataxia” was conducted. [movementdisorders.org]
What complications might you expect from the disease or treatment of the disease? The autosomal dominant SCAs are gradually progressive. There are no disease modifying treatments. [clinicaladvisor.com]
Treatment Treatment Options: No treatment has been reported. However, physical therapy, assistive devices for mobility, and low vision aids may be helpful. [disorders.eyes.arizona.edu]
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]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Prognosis
(See 'Prognosis' above and 'Treatment' above.) SCA3, also known as Machado-Joseph disease, is the most common type of SCA (table 1). SCA types 9 through 36 are rare and less well characterized. [es.slideshare.net]
Disease progression and severity often depend on the type of SCA. [1] Most available information on the prognosis of SCA is based on the four most common types: SCA1, SCA2, SCA3 and SCA6. [rarediseases.info.nih.gov]
[citation needed] Prognosis[edit] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [en.wikipedia.org]
Treatment and prognosis There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability. [wikidoc.org]
Distinguishing genetically heritable syndromes from isolated cases of vermian/cerebellar hypoplasia is important for both prognosis and genetic counseling. [ajnr.org]
Etiology
CCA was defined as an SCA of unknown etiology with imaging evidence of isolated cerebellar atrophy. [movementdisorders.org]
Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA. [wjgnet.com]
Etiology • Degenerative – MSA, Progressive myoclonic epilepsy • Stroke – cerebellar, thalamic, brainstem, pontomedullary junction, lesions causing ataxic hemiparesis • Tumors- Medulloblastoma, Astrocytoma, Ependymoma, Hemangioblastoma, Metastasis, Meningioma [slideshare.net]
Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]
Epidemiology
Consequently, they are often approached together in epidemiological studies. [karger.com]
Analysis of CAG´repeats in five SCA loci in Mexican population: epidemiological evidenceof a SCA7 founder effect.Clin Genet 2013. © John Wiley & Sons A/S. [scinapse.io]
Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea. [e-jmd.org]
There is a growing interest in the role of RNA in neurodegenerative diseases. 17 Epidemiology Prevalence of SCA varies considerably from country to country. [elsevier.es]
An important epidemiological feature of these Brazilian patients is the fact that they belong to three unrelated families with Japanese ancestry, all from the province of Hokkaido, in northern Japan. [scielo.br]
Pathophysiology
The pathophysiology of SCA depends on the function of the responsible gene. In some cases, the function of the gene and the pathway whereby cerebellum is damaged has not been discovered. [clinicaladvisor.com]
[…] and body sway during the 2-week titration period as well as the 8-week reassessment. [31] Insulin-Like Growth Factor Insulin-like growth factor-1 (IGF-1) acts as a neuromodulator in the CNS. [32] Disturbances in CNS signaling pathways may produce the pathophysiological [movementdisorders.org]
In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis. [acnr.co.uk]
"Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. ^ "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12. [en.wikipedia.org]
Prevention
How can spinocerebellar ataxia be prevented? There are no disease-modifying therapies, including none that prevent or postpone symptom onset in individuals carrying the mutated genes. [clinicaladvisor.com]
[citation needed] Treatment[edit] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]
Skin care and eventual placement of PEG tube (feeding tube) in patients with swallowing difficulties will help prevent lung infections. For more information, see Appendix - Classification of Spinocerebellar Ataxias. [bcm.edu]
Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. [karger.com]
Some can be suggested or diagnosed by imaging; others can be prevented by genetic counseling or treated if detected in early stages. [ajnr.org]