Spinocerebellar ataxia type 2
Senast uppdaterad 18 aug 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
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).
Beskrivning
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
SCA2
Related patient information and medicines
Patient information leaflet
Celiaki
It is an autoimmune disease. The immune system makes white blood cells (lymphocytes) and antibodies to protect against foreign objects such as bacteria, viruses and other germs... They may also be the cause of some of the problems that a person with coeliac disease can have in other parts of their body, such as the balance centre of the brain.
Patient information leaflet
Perifer neuropati
Perifer neuropati means damage to one or more of your peripheral nerves. The damage means that the messages that travel between your central and peripheral nervous system are disrupted. Hereditary diseases Certain diseases that you can inherit from your parents can cause peripheral neuropathy. Two of the most common of these are.
Patient information leaflet
Vattkoppor hos vuxna och tonåringar
If this occurs, the surrounding skin becomes red and sore. Antibiotic medication may then be needed. Inflammation of the lung (pneumonia) is a complication affecting about 1 in 10 adults with chickenpox. People who smoke are more likely to get this. Inflammation of the brain (encephalitis) and ataxia (problems co-ordinating movements) are very.
Patient information leaflet
Fotfall
Foot drop, which is also sometimes called a dropped foot, is a condition in which it is difficult to lift up the front part of the foot. As a result the forefoot and toes tend to catch or drag on the floor when walking. It can be temporary or permanent and m... Poliomyelitis (rarely causes isolated foot drop). Motor neurone disease. Friedreich's.
Patient information leaflet
Hyponatraemia
On the other hand severe chronic hy... Symptoms include: Mild hyponatraemia - lack or loss of appetite (anorexia), headache, feeling sick (nausea), being sick (vomiting), and lack of energy and enthusiasm (lethargy). Moderate hyponatraemia - personality change, muscle cramps and weakness, confusion, and lack of muscle co-ordination (ataxia)..
Patient information leaflet
Diabetes
There are two main types of diabetes - type 1 diabetes och type 2 diabetes. Type 1 usually first develops in children or in young adults. Type 2 usually firs... Maturity-onset diabetes of the young (MODY): this includes several forms of diabetes which are caused by genetic defects of the cells in the pancreas that make insulin. Other genetic.
Vidare läsning och referenser
- 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.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Feb 2011 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.