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Spinocerebellar Ataxia Type 13

SCA13


Presentation

  • We report a female patient of German descent with a molecular diagnosis of SCA13 who presented with a history of cerebellar ataxia and epilepsy.[ncbi.nlm.nih.gov]
  • AB - We report a female patient of German descent with a molecular diagnosis of SCA13 who presented with a history of cerebellar ataxia and epilepsy.[utah.pure.elsevier.com]
  • In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.[ncbi.nlm.nih.gov]
  • She is board certified in Neurology (1997-present) and is a member of the American Academy of Neurology, the American Neurological Association and the Movement Disorder Society.[books.google.de]
  • Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive.[en.wikipedia.org]
Weight Gain
  • Pregnancy Management Weight gain during pregnancy can further impair gait ataxia.[ncbi.nlm.nih.gov]
Aspiration
  • When dysphagia becomes troublesome, video esophagrams can identify the consistency of food least likely to trigger aspiration. Note: Tremor-controlling drugs are not effective for cerebellar tremors.[ncbi.nlm.nih.gov]
  • […] incoordination or muscle weakness) Speech therapy and communication devices (such as writing pads and computer-based devices) can be helpful for those with dysarthria Feeding assessment if dysphagia is present (dysphagia can lead to malnutrition, dehydration, aspiration[wiki.ggc.usg.edu]
Choking
  • For individuals with frequent choking or severe dysphagia, speech pathology evaluation may be important in assessing aspiration risks. Treatment of Manifestations Epileptic seizures can be improved by treatment with anticonvulsive medications.[ncbi.nlm.nih.gov]
Nocturnal Enuresis
  • Three individuals reported mild bladder control issues, and one had nocturnal enuresis. Two persons reported occasional sudden trunk movements consistent with myoclonic jerks though no myoclonus was observed during examination.[link.springer.com]
Nystagmus
  • Signs and symptoms [ edit ] SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and nystagmus.[en.wikipedia.org]
  • Signs and symptoms SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria , mental retardation , and nystagmus .[ipfs.io]
  • We identified a Filipino pedigree with adult onset gait/limb ataxia, dysmetria, hypotonia, dysarthria, and nystagmus. Linkage analysis mapped the causative mutation to a 4cM region of 19q13.[ashg.org]
  • Spinocerebellar ataxia 1 See the list below: Clinical features Onset in the fourth decade of life Gait ataxia, dysarthria, dysmetria, nystagmus, peripheral neuropathy, muscle wasting, and dystonia in late stages of the disease Gain of function mutation[emedicine.com]
  • […] dominant disorder Brain MRIs have been performed in several long-term affected patients, which have shown to possess mild to moderately severe spinocerebellar degeneration Characteristics and symptoms include: Dysarthria (motor speech disorder) Pathologic nystagmus[wiki.ggc.usg.edu]
Hyperreflexia
  • -- 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.com]
  • Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia.[uniprot.org]
  • However, other common SCA28 features like pyramidal tract signs (lower limb hyperreflexia, positive Babinski sign), ophthalmoparesis or ptosis were absent.[lf2.cuni.cz]
  • SCA3 type 1 (MJD Type 1, see this term) is associated with ataxia, ophthalmoparesis, pyramidal signs such as spasticity and hyperreflexia, and extrapyramidal signs including dystonia and other movement disorders presenting in adolescence.[orpha.net]
  • Discussion Spinocerebellar ataxia type 7 (SCA 7) is a polyglutamine (polyQ) neurodegenerative disease characterized by progressive cerebellar ataxia and retinal degeneration with ophthalmoplegia, hyperreflexia, sensory loss, dysarthria, and dysphagia.[oatext.com]
Mild Cognitive Impairment
  • The Montreal cognitive assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc. 2005;53:695–9. CrossRef PubMed Google Scholar 11.[link.springer.com]
  • The p.Arg423His variant has also been associated with mild cognitive impairment and seizures. Penetrance KCNC3 pathogenic variants appear to be fully penetrant in the families described. Anticipation Anticipation is not observed.[ncbi.nlm.nih.gov]
  • Overall, our case series extends the phenotype and suggests that protein kinase Cγ gene mutations should be considered in patients with slowly progressive autosomal dominant cerebellar ataxia, particularly when myoclonus, dystonia, or mild cognitive impairment[discovery.ucl.ac.uk]
  • Summary An autosomal dominant ataxia with isolated cerebellar signs, slow progression, mild cognitive impairment, and absence of cerebellar oculomotor signs may suggest the p.Arg420His allelic form of SCA13.[link.springer.com]
Pyramidal Tract Signs
  • However, other common SCA28 features like pyramidal tract signs (lower limb hyperreflexia, positive Babinski sign), ophthalmoparesis or ptosis were absent.[lf2.cuni.cz]
Absent Deep Tendon Reflex
  • One individual (diabetic) had absent deep tendon reflexes. None had extensor plantar reflex, chorea, dystonia, tremor, or other extrapyramidal signs. Three individuals reported mild bladder control issues, and one had nocturnal enuresis.[link.springer.com]

Workup

  • In selected patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 might be considered during the diagnostic workup.[movementdisorders.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.de]
  • You can help by adding to it. ( October 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it. ( October 2017 ) Prognosis [ edit ] There is no known prevention of spinocerebellar ataxia.[en.wikipedia.org]
  • Treatment or Management of the Condition SCA13 usually doesn't decrease one's life span and many people are able to live beyond 70 years old.[wiki.ggc.usg.edu]
  • Treatment of Manifestations Epileptic seizures can be improved by treatment with anticonvulsive medications.[ncbi.nlm.nih.gov]

Prognosis

  • In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.[ncbi.nlm.nih.gov]
  • You can help by adding to it. ( October 2017 ) Prognosis [ edit ] There is no known prevention of spinocerebellar ataxia.[en.wikipedia.org]
  • This results in neurons with longer after-hyperpolarizations and thus, a decreased maximal firing rate. [3] Prognosis There is no known prevention of spinocerebellar ataxia.[ipfs.io]
  • Diagnosis and Prognosis: Neurologists and ophthalmologists working together usually can make this diagnosis, especially if there is a family history.[disorders.eyes.arizona.edu]
  • Prognosis Prognosis is poor but patients have been reported to survive for decades after onset of symptoms.[orpha.net]

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.de]
  • Identification of KCNC3 mutations contributes a new class of genes to causative etiologies of progressive degenerative ataxias.[ashg.org]
  • Thus, it seems unlikely that expansion alone causes SCA8; other genetic mechanisms may be necessary to explain SCA8 etiology.[discovery.ucl.ac.uk]
  • Abstract The autosomal dominant spinocerebellar ataxias (SCAs) represent a growing and heterogeneous clinical phenotype with ongoing discovery of causative etiologies.[lens.org]

Epidemiology

  • Summary Epidemiology Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations: the highest prevalence has been found in the Azores (Flores Island (1/239)), intermediate prevalence rates in Portugal, Germany, the[orpha.net]
  • Silveira Epidemiology and population genetics of degenerative ataxias [19] T. Matsuura, L.P. Ranum, V. Volpini, M. Pandolfo, H. Sasaki, K.[elsevier.es]
  • Epidemiology [ edit ] The prevalence of SCA6 varies by culture.[en.wikipedia.org]
  • 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]
  • 616204 616291 616354 616719 607250 616948 616949 617133 文献 PMID: 19440741 著者 Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M タイトル Epidemiological[genome.jp]
Sex distribution
Age distribution

Pathophysiology

  • Symptoms and age of onset can vary slightly according to the causative mutation. [1] [2] Pathophysiology [ edit ] Mutations in KCNC3 are responsible for SCA13.[en.wikipedia.org]
  • Symptoms and age of onset can vary slightly according to the causative mutation. [1] [2] Pathophysiology Mutations in KCNC3 are responsible for SCA13.[ipfs.io]
  • Pathophysiology [ edit ] Most cases of SCA6 are a result of CAG repeat expansion beyond the normal range, i.e., more than 19 repeats, in the Ca v 2.1 calcium channel encoding gene CACNA1A. [1] This gene has two splice forms , "Q-type" and "P-type", and[en.wikipedia.org]
  • Study expanded the genotype-phenotype-pathophysiology repertoire of SCA13 by addition of a causative KCNC3 mutation, p.Pro583_Pro585del, its associated phenotype of profound spasticity, and the decreased inactivation rate of the mutant channel.[ncbi.nlm.nih.gov]
  • 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]

Prevention

  • Prevention of secondary complications : Weight control. Surveillance: Evaluation by a neurologist at least annually, and more often in the event of acute exacerbation.[ncbi.nlm.nih.gov]
  • You can help by adding to it. ( October 2017 ) Prognosis [ edit ] There is no known prevention of spinocerebellar ataxia.[en.wikipedia.org]
  • There are only methods available to manage/prevent the progression of the permanent characteristics and symptoms.[wiki.ggc.usg.edu]

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