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Spinocerebellar Ataxia Type 23

SCA23


Presentation

  • This variant was not present in 570 matched British controls.[ncbi.nlm.nih.gov]
  • Clinical description The disease typically presents in the 4th decade (age range 4-74 years).[orpha.net]
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.com]
  • 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]
Cerebral Palsy
  • Although it is characterized by excretion of large amounts of 4-hydroxybutyric acid in the urine, phenotype varies widely. [49] Clinical features Ataxia Hypotonia Nonspecific neurologic features such as cerebral palsy and developmental delay Psychomotor[emedicine.medscape.com]
Abnormal Eye Movement
  • In addition to ataxia, an abnormal eye movement known as nystagmus may appear on the neurological examination. SCA7 SCA7 only comprises 2 to 5 percent of autosomal dominant spinocerebellar ataxias.[verywell.com]
Ataxia
  • Spinocerebellar ataxias (SCAs) are dominantly inherited neurodegenerative disorders characterized by progressive cerebellar ataxia and dysarthria.[ncbi.nlm.nih.gov]
  • This is the first study to screen for SCA23 in UK patients and confirms that PDYN mutations are a very rare cause of spinocerebellar ataxia, accounting for 0.1 % of ataxia cases but perhaps with a higher frequency in pure cerebellar ataxia.[discovery.ucl.ac.uk]
Cerebellar Ataxia
  • ataxia, dysarthria and oculomotor abnormalities.[ncbi.nlm.nih.gov]
  • Durr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet neurology 9(9):885–894. doi: 10.1016/S1474-4422(10)70183-6 PubMed CrossRef Google Scholar 2.[link.springer.com]
  • Abstract Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities.[discovery.ucl.ac.uk]
Dysarthria
  • Spinocerebellar ataxias (SCAs) are dominantly inherited neurodegenerative disorders characterized by progressive cerebellar ataxia and dysarthria.[ncbi.nlm.nih.gov]
  • Abstract Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities.[discovery.ucl.ac.uk]
  • Cerebellar dysarthria and mildly ataxic gait occurred several years after dystonia manifested.[movementdisorders.org]
  • A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features.[emedicine.medscape.com]
Hyperreflexia
  • It is characterized by gait ataxia, dysarthria , slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. Epidemiology This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years.[rarediseases.info.nih.gov]
  • -- 18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1[emedicine.medscape.com]
  • Nystagmus, broken pursuits, hyperreflexia and Babinski sign were observed and she had a moderate degree of intention tremor and gait ataxia on examination. Radiologically, no obvious atrophic changes were observed in the MRI brain scan.[brain.oxfordjournals.org]
  • FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6[en.wikipedia.org]
Neurologic Manifestation
  • manifestations of ataxic disorders.[books.google.com]
  • Manifestations Nervous System Diseases Signs and Symptoms Cerebellar Diseases Brain Diseases Central Nervous System Diseases Spinal Cord Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Genetic Diseases, Inborn Immunoglobulins[clinicaltrials.gov]
  • manifestations beginning in childhood relate to complementation group Ataxia Telangiectasia Progressive ataxia plus Autosomal recessive 11q22-q23 ATM gene Product belongs to the P-13 kinase family of proteins involved in DNA damage recognition Ataxia[emedicine.medscape.com]

Workup

  • In selected patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 might be considered during the diagnostic workup.[movementdisorders.org]
  • After the initial workup, 140 patients with cerebellar ataxia remained.[e-jmd.org]

Treatment

  • In addition, new neurophysiological and imaging techniques are discussed, along with an in-depth examination of the treatment and management protocols of ataxic diseases.[books.google.com]
  • 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]
  • ICD-9 : 334 TREATMENT There is currently no cure or treatment to slow the progression of SCA. Medications can help manage the symptoms (stiffness, depression, spasticity and sleep disorders).[secure.ssa.gov]
  • KOR antagonists could be effective in the treatment of alcoholism [14] .[journals.plos.org]

Prognosis

  • Prognosis Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.[orpha.net]
  • Prognosis Prognosis is highly variable between the different types but improvement is unlikely.[patient.info]
  • Prognosis - Spinocerebellar ataxia 23 Not supplied. Treatment - Spinocerebellar ataxia 23 Not supplied. Resources - Spinocerebellar ataxia 23 Not supplied.[checkorphan.org]
  • Prognosis Prognosis may be good in some cases. Disease progression can be slow. Wheelchair dependence can occur more than 20 years after symptomatic disease onset.[rarediseases.info.nih.gov]

Etiology

  • Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies[books.google.com]
  • Etiology SCA17 is caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death.[orpha.net]
  • Etiology SCA23 maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease. Prognosis Prognosis may be good in some cases. Disease progression can be slow.[rarediseases.info.nih.gov]
  • Sporadic adult-onset ataxia of unknown etiology. Handb Clin Neurol 2012;103:253–262. 17. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al.[e-jmd.org]

Epidemiology

  • Summary Epidemiology Worldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date.[orpha.net]
  • Relevant External Links for PDYN Genetic Association Database (GAD) PDYN Human Genome Epidemiology (HuGE) Navigator PDYN Atlas of Genetics and Cytogenetics in Oncology and Haematology: PDYN No data available for Genatlas for PDYN Gene Prodynorphin mutations[genecards.org]
  • Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ].[patient.info]
  • Jorge-Cedeno, Molecular epidemiology of spinocerebellar taxias in cuba: Insights into sca2 founder effect in holguin, Neuroscience Letters 454 (2) (2009) 157–160. [3] R. J. Leigh, D. S.[revistas.utm.edu.ec]
Sex distribution
Age distribution

Pathophysiology

  • Allen R: Dopamine and iron in the pathophysiology of restless legs syndrome (RLS). Sleep Med 2004;5:385–391. Krieger J, Schroeder C: Iron, brain and restless legs syndrome. Sleep Med Rev 2001;5:277–286.[karger.com]
  • Matilla‐Dueñas A, Goold R and Giunti P (2008) Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum 7(2): 106–114.[els.net]
  • "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

  • Prevention - Spinocerebellar ataxia 23 Not supplied. Diagnosis - Spinocerebellar ataxia 23 The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Spinocerebellar ataxia 23.[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]
  • Dementia or other psychiatric illness that prevents the subject from giving informed consent (MMSE less than 25). Legal incapacity or limited legal capacity.[clinicaltrials.gov]
  • This result supports continuous investigation of the DYN/KOR system as potential pharmacological target for treatment of negative craving and relapse prevention in alcohol-dependent individuals.[journals.plos.org]
  • Defect Ataxia with selective vitamin E deficiency Chronic ataxia Autosomal recessive 8q13.1-q13.3 Mutated alpha-tocopherol transfer protein (ATTP) binds alpha-tocopherol, enhancing its transfer between separate membranes Vitamin E likely has a role in preventing[emedicine.medscape.com]

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