Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. [ncbi.nlm.nih.gov]

• Asymptomatic

  Stage 1 is asymptomatic and largely undetectable, despite underlying pathophysiologic processes. [neurologyadvisor.com]

  This way, a more practical formula in the case of asymptomatic individuals with an a priori risk of 50% will be: P = ² i /[² i +1]. [2] In a similar way, a more practical formula in the case of asymptomatic individuals with an a priori risk of 25% will [bvs.sld.cu]

  We enrolled participants aged 6-60 years who were asymptomatic offspring or siblings of patients with SCA2. Participants were repeatedly assessed (two to seven times) until they presented definite cerebellar syndrome. [ncbi.nlm.nih.gov]

  However, asymptomatic individuals (up to 75 years of age) heterozygous for 19 CAG repeats in the CACNA1A gene have also been reported [ 20 ]. [omicsonline.org]

  Inagaki A, Iida A, Matsubara M, Inagaki H (2005) Positron emission tomography and magnetic resonance imaging in spinocerebellar ataxia type 2: a study of symptomatic and asymptomatic individuals. Eur J Neurol 12: 725–728. [journals.plos.org]

• Muscle Cramp

  Muscle cramps and sensory abnormalities were the most common clinical features in carriers (n=17 [81%] for both features) compared with controls (n=3 [16%] and n=4 [21%], respectively; χ(2)=84·58; p INTERPRETATION: Early features of SCA2 are detectable [ncbi.nlm.nih.gov]

  SCA2 is characterized by slowly progressive ataxia sometimes with leg stiffness and/or painful leg muscle cramps at night. Mild dementia has been reported, which appears to be predominantly an impairment of executive functions. [ataxia.uchicago.edu]

  Levodopa may be prescribed to help with some of the movement problems (e.g., rigidity and tremor), and magnesium may improve muscle cramping. [1] [3] [4] Last updated: 1/31/2014 If you need medical advice, you can look for doctors or other healthcare [rarediseases.info.nih.gov]

• Leg Cramp

  SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner. [1] [2] Last updated: 6/23/2014 Early symptoms of spinocerebellar ataxia may include uncoordinated movement (ataxia) and leg cramps. [rarediseases.info.nih.gov]

• Hyporeflexia

  Most of the patients manifested with the typical clinical features of SCA2 such as cerebellar ataxia, ophthalmoplegia, slow saccade and hyporeflexia. Some of them also associated with action tremor. [cjcnn.org]

  Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia, severe tremor of postural or action type, peripheral neuropathy, cognitive [ncbi.nlm.nih.gov]

  Spinocerebellar Ataxia Type 2 Jee Hoon Roh Department of Neurology, Korea University College of Medicine, Seoul, Korea Abstract The spinocerebellar ataxia type 2 (SCA 2) is an autosomal dominant cerebellar ataxia that commonly presents with cerebellar ataxia, hyporeflexia [jkna.org]

  Neurologic examination revealed scanning speech, ataxia, and hyporeflexia. Brain CT showed diffuse atrophy of the cerebellum. Electronystagmography demonstrated slowed saccades with normal accuracy and delayed latency. [e-acn.org]

  Postural and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia Dysarthria with scanning speech and dysphagia Intermittent [emedicine.medscape.com]

• Dysmetria

  Whereas disease progression with prevailing ataxia and dysmetria was slow over the first symptomatic 6 years, 6 months prior to operation were characterized by the development of a severe, debilitating postural tremor rendering the patient unable to independently [ncbi.nlm.nih.gov]

  There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements. There may be movement disorders. [patient.info]

  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]

  […] inheritance 0000006 Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dilated fourth ventricle 0002198 Distal amyotrophy Distal muscle wasting 0003693 Dysdiadochokinesis Difficulty performing quick and alternating movements 0002075 Dysmetria [rarediseases.info.nih.gov]

• Cerebellar Disease

  Hereditary cerebellar ataxia NOS Hereditary cerebellar degeneration Hereditary cerebellar disease Hereditary cerebellar syndrome specified NEC G11.8 ICD-10-CM Codes Adjacent To G11.8 G07 Intracranial and intraspinal abscess and granuloma in diseases [icd10data.com]

  diseases can be difficult to manage. [7] Unlike ataxia following a stroke, which may permit unaffected, intact areas of the cerebellum to compensate for deteriorating areas, degenerative cerebellar diseases begin to affect essentially all parts of the [physio-pedia.com]

  […] is probably rare and in its differential diagnosis includes screening for metabolic diseases, such as Wilson's disease, Nieman-Pick type C, [12] cerebrotendinous xanthomatosis, [13] and so on, although in these cases dystonia and cerebellar signs develop [movementdisorders.org]

  "Cerebellar Ataxia Rehabilitation Trial in Degenerative Cerebellar Diseases". Neurorehabilitation and Neural Repair. 26 (5): 515–22. doi : 10.1177/1545968311425918. PMID 22140200. Further reading [ edit ] Bird, Thomas D (23 January 2014). [en.wikipedia.org]

  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]

• Postural Instability

  الصفحة 190 - Bradykinesia (slowness of initiation of voluntary movement with progressive reduction in speed and amplitude of repetitive actions) • And at least one of the following: muscular rigidity 4—6 Hz rest tremor postural instability not caused [books.google.com]

  Seite 190 - Bradykinesia (slowness of initiation of voluntary movement with progressive reduction in speed and amplitude of repetitive actions) • And at least one of the following: muscular rigidity 4—6 Hz rest tremor postural instability not caused by [books.google.de]

  instability Balance impairment 0002172 Rigidity Muscle rigidity 0002063 Rod-cone dystrophy 0000510 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Spinocerebellar tract degeneration 0002503 Urinary bladder sphincter dysfunction [rarediseases.info.nih.gov]

  Three types of MJD based on time of onset, progression, and severity of symptoms [9] [10] Other core signs of MJD include: Physical: Ataxia (normally the first symptom to develop) [10] Postural instability [4] Dysarthria [4] Nystagmus [4] Eyelid retraction [physio-pedia.com]

• 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.medscape.com]

  Hyperreflexia and extensor plantar responses occur in up to 50% of individuals with SCA6. Basal ganglia signs, such as dystonia and blepharospasm, are noted in a quarter of affected individuals. [omicsonline.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]

Further genetic workup revealed 96 CAG repeat expansion compared with a normal of Spinocerebellar ataxia Type 7 is a disease of expanded CAG repeats showing genetic anticipation. [journals.lww.com]

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

No treatment for SCA2 exists. ATXN2 mutation causes gains of new or toxic functions for the ATXN2 protein, resulting in abnormally slow Purkinje cell (PC) firing frequency and ultimately PC loss. [ncbi.nlm.nih.gov]

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]

Prognosis Prognosis is relatively good in most cases. Cases with disease duration of longer than 20 years have been described. [orpha.net]

[…] spinocerebellar ataxia type 2 presentation in childhood, highlights the importance of considering a spinocerebellar ataxia in a child who presents with cognitive regression only, and extends currently available clinical information to help clinicians discuss the prognosis [ncbi.nlm.nih.gov]

Prognosis Prognosis is highly variable between the different types but improvement is unlikely. [patient.info]

However, individual prognosis based on the repeat number is not possible. [mgz-muenchen.de]

Prognosis Spinocerebellar ataxias due to repeat expansion mutations usually become sick in middle age. In addition to ataxia, other neurological findings are often present depending on the variant of SCA. [verywell.com]

Etiology The disease is caused by mutations in the ataxin 2 gene ATXN2 (12q23-q24.1). The normal CAG repeat length is 15-24; repeats 35 and longer are associated with the clinical manifestations of SCA2. [orpha.net]

[…] also been documented in case series. 11 Electrophysiological testing shows early cone dysfunction followed by rod dysfunction in later stages, resulting in a cone–rod dystrophy. 12 Differential diagnosis of this disease should include the following etiologies [journals.lww.com]

The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [uniprot.org]

[…] detecting reagent EP2287308B1 ( en ) 2014-04-09 Materials and methods for identifying and analyzing intermediate tandem repeat DNA markers EP0466083A2 ( en ) 1992-01-15 Method for site-directed mutagenesis KR100834587B1 ( en ) 2008-06-09 Infectious etiologic [google.mk]

Moreover, increased intracellular Ca 2+, which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases. [emedicine.medscape.com]

Summary Epidemiology Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations. Clinical description SCA2 presents in the 3rd or 4th decade (average age = 30 years; age range = 2-65 years). [orpha.net]

[…] commonly at allele 37 (72%). 5 The vast majority (89%) of offspring of SGA2 confirmed patients have been shown to have expansions, whereas the remaining 11% have contracted cytosine, adenine, and guanine repeats with incomplete penetrance. 5 Limited epidemiologic [neurologyadvisor.com]

Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009 Apr 24;454(2):157-60. doi: 10.1016/j.neulet.2009.03.015. Epub 2009 Mar 11. [ghr.nlm.nih.gov]

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]

Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ]. [patient.info]

Author information 1 Department of Pathophysiology, Faculty of Medicine, Charles University in Prague, Simkova, Hradec Kralove, Czech Republic, [email protected] Abstract Reports of visual functional impairment in spinocerebellar ataxia type [ncbi.nlm.nih.gov]

[…] polyglutamine disorders and considering the molecular basis of SCA2 pathogenesis, a nuclei-acid-based strategy focused on the specific silencing of the dominant disease allele that preserves the expression of the wild-type allele is highly desirable and might prevent [ncbi.nlm.nih.gov]

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Can Spinocerebellar Ataxia be Prevented? Today’s medical technology is not adequately advanced to prevent SCA. However, technology is available to accurately identify the mutated gene in a patient with SCA. [medindia.net]