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Spinocerebellar Ataxia Type 30

Spinocerebellar Ataxia 30


Presentation

  • Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67(9):1701-3. Schneider SA, Walker RH, Bhatia KP.[books.google.es]
  • Hereby we present 10 cases of SCA-12 with emphasis upon clinical presentations. Methods: Medical history, demographic data and detailed clinical presentation were studied.[mdsabstracts.org]
  • However, these ophthalmoscopic abnormalities are not usually present until late in the course of the disease.[journals.lww.com]
  • Clinically, our SCA11 patients had phenotypic characteristics as described before presenting with slowly progressive almost pure cerebellar ataxia with normal life expectancy.[hal.archives-ouvertes.fr]
  • 46-year-old male presenting with progressive esotropia February 16, 2010 History of Present Illness: A 46-year-old male, presented for follow up of a long-standing progressive esotropia (ET).[webeye.ophth.uiowa.edu]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic’s Medical Staff Association recognized Dr.[books.google.com]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • Evaluation and Management of Ataxic Disorders: An Overview for Physicians. Minneapolis: National Ataxia Foundation. p. 6. ISBN 0-943218-14-4. LCCN 2007923539. Online Mendelian Inheritance in Man (OMIM) 609307 Jiang, Bingcheng; Glover, J.N.[en.wikipedia.org]
Anemia
  • He is also investigating photolysis of non‐biological compounds such as 8‐methoxypsoralen UVA, mitomycin C, and nitrogen mustard and their importance in psoriasis treatment and in Fanconi anemia.[books.google.es]
  • Name OMIM RareDiseases Other Anemia, sideroblastic spinocerebellar ataxia; Pagon Bird Detter syndrome 301310 Disease ID 668 at NIH 's Office of Rare Diseases Friedreich's ataxia; Spinocerebellar ataxia, Friedreich 229300 Disease ID 6468 at NIH 's Office[en.wikipedia.org]
Myopathy
  • […] research laboratories of Boston Children’s and other institutions, focuses on the description of novel mutations in patients with neuromuscular diseases and the application of new technologies to explore the pathogenesis and treatment of congenital myopathies[books.google.com]
  • Ubiquinone deficiency presents with many different clinical phenotypes ranging from myopathy to Leigh's disease. Gene inheritance and pathogenesis: Autosomal recessive, genetic heterogeneity is likely.[emedicine.medscape.com]
Impulsivity
  • Take a close look on our metrology devices and experience them on one of the many fairs where we exhibit our products. learn more Measure Rotary Encoders Incremental Mini - Incremental Ausführung Impulse Ø ohne Feder Max.[willtec.de]

Treatment

  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • It brings together nearly the entire spectrum of motor disorders and Neurology into one convenient resource to aid in a comprehensive evaluation, diagnosis, distinction, and treatment of various disorders.[books.google.es]

Prognosis

  • References: [1] [4] Prognosis[amboss.com]
  • Prognosis Prognosis is highly variable between the different types but improvement is unlikely.[patient.info]
  • SCA Type 3, also known as Machado-Joseph disease (MJD) is the most common (21%) of all SCAs and shares the same prognosis of 10-20 years.[spinocerebellarataxia.org]
  • Prognosis - Spinocerebellar ataxia 8 Not supplied. Treatment - Spinocerebellar ataxia 8 There is no cure for spinocerebellar ataxia. There is also no treatment to slow the progression of the disease. Treatment, therefore, remains supportive.[checkorphan.org]
  • This is an important finding considering the prognosis and non availability of treatment in bio-medicine. This case study shows that patients suffering with SCA -2 can be treated with Ayurvedic management with satisfactory outcomes.[ancientscienceoflife.org]

Etiology

  • Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med.[books.google.es]
  • Etiology Clinical features Diagnostics The diagnosis is clinical and based on family history and neurological examination . Further tests help identify the specific cause and type of SCA.[amboss.com]
  • Hereditary cerebellar ataxias are a clinically, pathologically, and etiologically heterogeneous group of disorders [ 1 , 2 ].[e-jmd.org]
  • Moreover, increased intracellular Ca 2 , which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases.[emedicine.medscape.com]

Epidemiology

  • Epidemiology References: [1] [2] Epidemiological data refers to the US, unless otherwise specified. Etiology Clinical features Diagnostics The diagnosis is clinical and based on family history and neurological examination .[amboss.com]
  • Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea.[e-jmd.org]
  • Pérez L, Cruz GS, Santos Falcón N, Almaguer Mederos L, Escalona Batallan K, Rodríguez Labrada R, Paneque Herrera M, Laffita Mesa JM, Rodríguez Díaz JC, Rodríguez RA, González Zaldivar Y, Coello Almarales D, Almaguer Gotay D, Jorge Cedeño H: Molecular epidemiology[karger.com]
  • Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ].[patient.info]
  • Sequeiros J: Machado- Joseph disease: epidemiology, genetics and genetic epidemiology; in Lechtenberg R (ed): Handbook of Cerebellar Diseases, Dekker, NY, 1993, pp. 345- 351. Nance MA, Myers RH.[bvs.sld.cu]
Sex distribution
Age distribution

Pathophysiology

  • "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

  • […] following: JavaScript may be disabled or not running on your browser Your browser may appear to be an automated tool that is not allowed on Octopart You are using a VPN to access Octopart An error (please contact us so we can correct it) What can I do to prevent[octopart.com]
  • Prevention of secondary complications: Joint contractures can be prevented by appropriate physiotherapy. Surveillance: annual neurologic examination.[lacaf.org]
  • Prevention - Spinocerebellar ataxia 8 Not supplied. Diagnosis - Spinocerebellar ataxia 8 The diagnosis of spinocerebellar ataxia is initially suspected by the adult-onset of symptoms.[checkorphan.org]
  • Prevention Genetic testing enables identification of the causative gene in 50-80% of cases of ADCA [ 15 ]. Pre-symptomatic testing is available but not always wanted. It is usually requested for family planning purposes.[patient.info]
  • Newman is a recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award. Drs. Leigh and Thurtell are supported by NIH Grant EY06717, by the Department of Veterans Affairs, and by the Evenor Armington Fund.[journals.lww.com]

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