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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Episodic Ataxia, Type 2 | |
| Synonyms |
Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia Episodic Ataxia, Nystagmus-Associated Episodic ataxia type 2 Ataxia, Familial Paroxysmal Acetazolamide-responsive episodic ataxia syndrome Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Ataxia, familial, paroxysmal Nystagmus-associated episodic ataxia Ataxia, Episodic, With Nystagmus Episodic ataxia with nystagmus Cerebellopathy, hereditary paroxysmal Cerebellar ataxia, paroxysmal, Acetazolamide-responsive |
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| ID |
http://purl.bioontology.org/ontology/MESH/C535506 |
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| altLabel |
Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia Episodic Ataxia, Nystagmus-Associated Episodic ataxia type 2 Ataxia, Familial Paroxysmal Acetazolamide-responsive episodic ataxia syndrome Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Ataxia, familial, paroxysmal Nystagmus-associated episodic ataxia Ataxia, Episodic, With Nystagmus Episodic ataxia with nystagmus Cerebellopathy, hereditary paroxysmal Cerebellar ataxia, paroxysmal, Acetazolamide-responsive
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| cui |
C1720416
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| HM |
D001259 D009759
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| Inverse of RB |
0
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| Mapped to | ||
| MDA |
20100825
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| MeSH Frequency |
42
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| MMR |
20150818
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| notation |
C535506
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| prefLabel |
Episodic Ataxia, Type 2
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| SC |
3
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| Scope Statement |
The most common form of episodic ataxia, a genetically heterogeneous condition characterized by episodes of incoordiantion and imbalance similar to progressive ataxia. Episodic ataxia 2 exhibits autosomal dominant inheritance and is further characterized by onset in childhood or adolescence and the occurence of nystagmus, TINNITUS; MIGRAINE HEADACHE, and other neurologic symptoms. Episodes are often triggered by sudden movements, fatigue, stress, stimulant or alcohol use and may be treated by ACETAZOLAMIDE. Mutations in the CACNA1A gene have been identified. OMIM: 108500
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| TERMUI |
T736321 T802567 T736317 T736323 T802566 T802565 T802562 T736326 T736322 T802563 T736319 T736318 T736325
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| TH |
OMIM (2013) ORD (2010)
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| tui |
T047
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