Spinocerebellar ataxia type 6
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Spinocerebellar ataxia type 6 (SCA6) 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 SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).
Descripción
Spinocerebellar ataxia type 6 (SCA6) 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 SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).
Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. People with this disorder may require walking or mobility assistance later in life.
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
SCA6
Type 6 spinocerebellar ataxia
Related patient information and medicines
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Neuropatía periférica
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Enfermedad celíaca
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. In an autoimmune disease, the immune system mistakes part ... Persistent, unexplained abnormal liver function tests. Unexplained ataxia, that could be gluten ataxia..
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Pie caído
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Contacto con varicela durante el embarazo
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Hiponatremia
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
Enfermedad ósea de Paget
Paget's disease of bone affects the structure of parts of one or more bones. In most cases it causes no symptoms and does not need treatment. Symptoms develop in some cases and pain in the affected part of bone is the most common symptom. A... There is a slow but constant turnover of bone. What is Paget's disease of bone. Paget's disease of bone.
Lecturas adicionales y referencias
- Spinocerebellar ataxia type 6; MedlinePlus, National Library of Medicine.
- Casey HL, Gomez CM. Spinocerebellar Ataxia Type 6. 1998 Oct 23 [updated 2019 Nov 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1140/
- Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, Sato N, Sakamoto M, Fujigasaki H, Tsuruta F, Dolmetsch R, Arai T, Sasaki H, Nagashima K, Kato T, Yamada M, Takahashi H, Hashizume Y, Mizusawa H. The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. Acta Neuropathol. 2010 Apr;119(4):447-64. doi: 10.1007/s00401-009-0630-0. Epub 2009 Dec 31.
- Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics. 2007 Apr;4(2):285-94. doi: 10.1016/j.nurt.2007.01.003.
- Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias. F1000 Biol Rep. 2010 Jan 18;2:4. doi: 10.3410/B2-4.
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