The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. [ncbi.nlm.nih.gov]

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]

The purpose of this article is to present a case study and review of SCA-7. [journals.lww.com]

These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. [books.google.es]

• Movement Disorder

  The Handbook of Clinical Neurology Vol 100: Hyperkinetic Movement Disorders discusses hyperkinetic disorders related mainly to basal ganglia dysfunction and pathology. [books.google.es]

  Principles and Practice of Movement Disorders, Churchill Livingstone, Elsevier, Philadelphia, PA, 2007:1-652. (Accompanied by a DVD of movement disorders). Furtado S, Payami H, Lockhart PJ, et al. [bcm.edu]

  Further Reading van Gaalen J, Giunti P and van de Warrenburg BP (2011) Movement disorders in spinocerebellar ataxias. Movement disorders 26(5): 792–800. Manto M and Marmolino D (2009) Cerebellar ataxias. Current Opinion in Neurology 22(4): 419–429. [els.net]

  Dementia 17, DRPLA 2, 13, 19, 21 Psychosis DRPLA, 17 3, 27 (Episodic) Epilepsy 10, DRPLA 17 Movement disorders Chorea DRPLA, 17 1 (Late stage) Myoclonus DRPLA 2, 19 Tremor 2, 8, 12 15, 21, 27 Parkinsonism 3, 9, 12, 17 2, 21 Dystonia 3 17 Ocular disorders [neuromuscular.wustl.edu]

  THE ENCYCLOPEDIA OF MOVEMENT DISORDER (2010) 1:151-154. Elsevier Science & Technology. Oxford. 3. Magaña, J. J., Velázquez-Pérez, L., and Cisneros, B. [neurowiki2013.wikidot.com]

• Short Stature

  Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy. [emedicine.medscape.com]

• High Pitched Voice

  […] sounds 0001618 High pitched voice 0001620 Limb ataxia 0002070 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Palatal myoclonus 0010530 Postural tremor 0002174 Slow progression Signs and symptoms worsen slowly with time 0003677 Showing of [rarediseases.info.nih.gov]

• Constipation

  Benztropine (1) best for resting tremor in patients less than age 70 (bc anticholinergic SE below) (2) improves tremor and rigidity but not much affect on bradykinesia (3) Anticholinergic SE: dry skin/mouth, constipation, urinary retention, precipitate [neurosurgerystudent.blogspot.com]

• Myopathy

  With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [igenomix.es]

  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]

  […] deficit or paresthesias o Muscle weakness o Sphincter disturbance (hesitancy, retention, overflow) · Evaluation o CSF contained elevated protein or pleocytosis in 62% of patients o MRI · Rx: high-dose steroids may have some efficacy Corticosteroid-induced myopathy [neurosurgerystudent.blogspot.com]

• Babinski Sign

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.nih.gov]

  Clinical features Areflexia, proprioceptive dysfunction, loss of reflexes, and Babinski sign (prominent findings) By 5-10 years, gait disturbances and cerebellar signs Malabsorptive state in the early years with steatorrhea and abdominal distension Pes [emedicine.medscape.com]

  (electric sher puock-like pain radiating down the spine on neck flexion) is common o Reflex: hyperreflexia and Babinski signs o GU Symptoms: urinary frequency, urgency, and incontinence · Diagnosis o No single clinical feature or diagnostic test is adequate [neurosurgerystudent.blogspot.com]

• Polyneuropathy

  Kubis N, Dürr A, Gugenheim M, Chneiweiss H, Mazzetti P, Brice A, Bouche P: Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation. [karger.com]

  Clinical features Onset in the second to third decade of life Cerebellar ataxia (may be superimposed in some patients) Early presentation of night blindness and pigmentary degeneration of the retina Polyneuropathy with elevated CSF protein Sensorineural [emedicine.medscape.com]

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]

[…] of Spinocerebellar Ataxia Medical research yet now unable to discover the curative treatment for spinocerebellar ataxia, even the available treatment is not able to control the disease progression. [healthsaline.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]

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]

The prognosis is bleak, with a gradual progression to disability and death within 10-20 years. Ref: Orr, H.T. et al. (1993). Expansion of an unstable CAG trinucleotide repeat in spinocerebellar ataxia type I. Nature Genet. 4, 221-26. [gpnotebook.co.uk]

Prognosis Prognosis is relatively good. Most patients can walk with or without gait aids and many patients live to more than 60 years of age. Last updated: 5/1/2011 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

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]

This disorder also has a poor prognosis. [emedicine.medscape.com]

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 SCA20 has been linked to chromosome 11q12.2-11q12.3, overlapping with the locus for SCA5 (see this term), though clinical features differ. [rarediseases.info.nih.gov]

[…] 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]

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]

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]

Epidemiology Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Clinical description Age of symptomatic disease onset ranges from 19 to 64 years (mean age = 46.5 years). [rarediseases.info.nih.gov]

Recent evidence suggests that ataxin-7 interacts with CRX which is a nuclear transcription factor predominantly expressed in retinal photoreceptor cells in which a mutation can cause cone-rod dystrophy. (5) Table 2: The Spinocerebellar Ataxias: Epidemiology [webeye.ophth.uiowa.edu]

An epidemiological study performed in the Netherlands found a prevalence of 3.0 : 100,000. The SCAs are genetically and clinically heterogeneous disorders with SCA1, SCA2, SCA3 and SCA6 being the most frequent genotypes worldwide. [ataxia-study-group.net]

This book discusses the pathophysiology of tremor including membrane mechanisms and rodent models, the advances in genetics and the musculoskeletal models pertinent to body oscillations. [books.google.es]

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 RNA toxicity and foci formation in microsatellite expansion diseases. [myobase.org]

Pathophysiology a. mutation in or deletion of the NF1 gene b. gene product neurofibromin serves as a tumor suppressor 3. Incidence: 1 in 3000 4. [neurosurgerystudent.blogspot.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 of secondary complications: Prevention of falls by using appropriate gait aids and home modifications; personal alarm system. GENETIC COUNSELING: SCA20 is inherited in an autosomal dominant manner. [ncbi.nlm.nih.gov]

The Department of Pediatrics at UCSD is one of the nation's premier Departments devoted to improving the understanding of disease pathogenesis in order to better diagnose, treat and prevent diseases in infants and children. [laspadalab.ucsd.edu]

Proteins mediating transfer of information – hormones, cytokines, receptors Locomotive Proteins that are responsible for movement – myosin, actin … Transport Proteins that transport various substances – haemoglobin, transferrin, … Defensive Proteins that prevent [slideshare.net]

[…] receipts from all of the retailer’s sales, within the preceding 12 months, of tangible personal property to purchasers in this state transacted online exceeds one hundred thousand dollars ($100,000). (4) This subdivision shall not be interpreted to prevent [leginfo.legislature.ca.gov]