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]

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]

We show that although protein kinase Cγ gene mutations present mainly as slowly progressive pure ataxia, more than a third of cases had a complex phenotype. [discovery.ucl.ac.uk]

• Weight Gain

  Pregnancy Management Weight gain during pregnancy can further impair gait ataxia. [ncbi.nlm.nih.gov]

• 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]

• Increased Susceptibility to Infections

  susceptibility to infections Oculomotor apraxia Progressive ataxia and slurred speech Susceptibility to cancer (eg, leukemia, lymphoma) Laboratory findings Molecular genetic testing is performed for mutations affecting the ATM gene locus (11q22.3). [emedicine.com]

• Aspiration

  […] 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]

  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]

• Psychomotor Retardation

  GM2 gangliosidosis Progressive ataxia plus Seizures Psychomotor regression Spasticity Extrapyramidal features Supranuclear gaze palsies Autosomal recessive 1. 22q13.3-qter/ 2. 14q31 3. 1q21 18q11-q12 4. 15q23-q24 1. [emedicine.com]

• 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]

  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]

  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]

  Results: Clinical characterization of affected family members revealed cerebellar signs including gait ataxia, limb ataxia/dysmetria, titubation, hypotonia, dysarthria, and nystagmus. [lens.org]

• Mild Cognitive Impairment

  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]

  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]

• 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]

• 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]

In selected patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 might be considered during the diagnostic workup. [movementdisorders.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]

Only supportive treatment is available. [emedicine.com]

Some level of improvement was shown to be maintained 24 weeks post-treatment. [en.wikipedia.org]

Treatment of Manifestations Epileptic seizures can be improved by treatment with anticonvulsive medications. [ncbi.nlm.nih.gov]

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]

Identification of KCNC3 mutations contributes a new class of genes to causative etiologies of progressive degenerative ataxias. [ashg.org]

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]

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]

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]

Tsuji S, Onodera O, Goto J et al. (2008) Sporadic ataxias in Japan – a population‐based epidemiological study. Cerebellum 7(2): 189–197. Zoghbi HY and Orr HT (2001) Spinocerebellar ataxias. In: Scriver CR, Sly WS and Childs AL et al. [els.net]

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]

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]

Advances in genetics have led to the successful classification of over 20 forms of autosomal dominant and recessive cerebellar ataxias with variable phenotypes and have shed light on the underlying pathophysiology of many of these disorders. [journals.lww.com]

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology Stoyas CA, La Spada AR Handbook of clinical neurology, 2018, 147, p 143 Cajal bodies in neurons Lafarga M, Tapia O, Romero AM, et al. [myobase.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]

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]

There are only methods available to manage/prevent the progression of the permanent characteristics and symptoms. [wiki.ggc.usg.edu]

Prevention of secondary complications: Weight control. Surveillance: Evaluation by a neurologist at least annually, and more often in the event of acute exacerbation. [childnervoussystem.blogspot.com]