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]

• Dysmetria

  Neurological examination revealed bilateral plantar extensor responses, abolished Achilles reflexes, and finger to nose dysmetria. [karger.com]

  Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.net]

  However, his vibration and positional senses were decreased in the lower limbs, his deep tendon reflexes were hyporeflexic in all the limbs, Babinski signs were absent bilaterally, and he had bilateral upper and lower limb dysmetria and truncal ataxia [synapse.koreamed.org]

  Dyssynergia (impaired synergistic movements of agonists and antagonists), dysmetria (difficulty in judging distance of the target) and dysdiadochokinesis are cerebellar abnormalities of movement. [jpgmonline.com]

  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]

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]

(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]

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]

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]

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]

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]