Medicine:GOSR2-related progressive myoclonus ataxia
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| GOSR2-related progressive myoclonus ataxia | |
|---|---|
| Other names | EPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6 |
| Specialty | Medical genetics |
| Symptoms | Myoclonic epilepsy with progressive ataxia |
| Complications | Walking, consciousness, sanity |
| Usual onset | Early |
| Duration | Lifelong |
| Types | This disorder is a type of progressive myoclonic epilepsy, but it doesn't have any subtypes itself |
| Causes | Autosomal recessive genetic mutation |
| Diagnostic method | Genetic testing |
| Treatment | Physical therapy |
| Frequency | very rare, only 12 cases have been described in medical literature |
| Deaths | - |
GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline.[1][2]
According to OMIM,[3] only 12 cases have been described in medical literature.[4][5][6] It is caused by autosomal recessive loss of function mutations in the (as the name implies) GOSR2 gene, in chromosome 17.[4]
References
- ↑ "Orphanet: Progressive myoclonic epilepsy type 6" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=280620.
- ↑ "GOSR2-related progressive myoclonus ataxia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". 2021-03-21. https://rarediseases.info.nih.gov/diseases/3872/gosr2-related-progressive-myoclonus-ataxia.
- ↑ "OMIM Entry - # 614018 - Epilepsy, Progressive Myoclonic, 6; EPM6" (in en-us). https://omim.org/entry/614018.
- ↑ 4.0 4.1 Corbett, Mark A.; Schwake, Michael; Bahlo, Melanie; Dibbens, Leanne M.; Lin, Meng; Gandolfo, Luke C.; Vears, Danya F.; O'Sullivan, John D. et al. (2011-05-13). "A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia". American Journal of Human Genetics 88 (5): 657–663. doi:10.1016/j.ajhg.2011.04.011. ISSN 1537-6605. PMID 21549339.
- ↑ van Egmond, Martje E.; Verschuuren-Bemelmans, Corien C.; Nibbeling, Esther A.; Elting, Jan Willem J.; Sival, Deborah A.; Brouwer, Oebele F.; de Vries, Jeroen J.; Kremer, Hubertus P. et al. (January 2014). "Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation". Movement Disorders 29 (1): 139–143. doi:10.1002/mds.25704. ISSN 1531-8257. PMID 24458321. https://pubmed.ncbi.nlm.nih.gov/24458321/.
- ↑ Praschberger, Roman; Balint, Bettina; Mencacci, Niccolo E.; Hersheson, Joshua; Rubio-Agusti, Ignacio; Kullmann, Dimitri M.; Bettencourt, Conceição; Bhatia, Kailash et al. (September 2015). "Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene". Movement Disorders Clinical Practice 2 (3): 271–273. doi:10.1002/mdc3.12190. ISSN 2330-1619. PMID 30363482.
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