Spinocerebellar ataxia type 2
Última actualización 18 Aug 2020
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Spinocerebellar ataxia type 2 (SCA2) is a condition characterised by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).
Descripción
Spinocerebellar ataxia type 2 (SCA2) is a condition characterised by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).
Over time, individuals with SCA2 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Some people with SCA2 develop a group of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). Individuals with SCA2 may have problems with short term memory, planning, and problem solving, or experience an overall decline in intellectual function (dementia).
Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA2 usually survive 10 to 20 years after symptoms first appear.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
SCA2
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Lecturas adicionales y referencias
- Spinocerebellar ataxia type 2; MedlinePlus, National Library of Medicine.
- Almaguer-Mederos LE, Falcon NS, Almira YR, Zaldivar YG, Almarales DC, Gongora EM, Herrera MP, Batallan KE, Arminan RR, Manresa MV, Cruz GS, Laffita-Mesa J, Cyuz TM, Chang V, Auburger G, Gispert S, Perez LV. Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis. Clin Genet. 2010 Aug;78(2):169-74. doi: 10.1111/j.1399-0004.2009.01358.x. Epub 2009 Dec 2.
- Lastres-Becker I, Rub U, Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum. 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y.
- Mederos LE, Proenza CL, Almira YR, Batallan KE, Falcon NS, Gongora EM, Almarales DC, Perez LV, Herrera MP. Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2. Clin Genet. 2008 Dec;74(6):571-3. doi: 10.1111/j.1399-0004.2008.01073.x. Epub 2008 Aug 18. No abstract available.
- Velazquez Perez L, Cruz GS, Santos Falcon N, Enrique Almaguer Mederos L, Escalona Batallan K, Rodriguez Labrada R, Paneque Herrera M, Laffita Mesa JM, Rodriguez Diaz JC, Rodriguez RA, Gonzalez Zaldivar Y, Coello Almarales D, Almaguer Gotay D, Jorge Cedeno H. 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.
- Velazquez-Perez L, Rodriguez-Labrada R, Canales-Ochoa N, Sanchez-Cruz G, Fernandez-Ruiz J, Montero JM, Aguilera-Rodriguez R, Diaz R, Almaguer-Mederos LE, Truitz AP. Progression markers of Spinocerebellar ataxia 2. A twenty years neurophysiological follow up study. J Neurol Sci. 2010 Mar 15;290(1-2):22-6. doi: 10.1016/j.jns.2009.12.013. Epub 2010 Jan 12.
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