GOSR2-related progressive myoclonus ataxia
{{Infobox medical condition
|name = GOSR2-related progressive myoclonus ataxia
|synonyms = EPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6
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|specialty = Medical genetics
|symptoms = Myoclonic epilepsy with progressive ataxia
|complications = Walking, consciousness, sanity
|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
|risks =
|diagnosis = Genetic testing
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|treatment = Physical therapy
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|frequency = very rare, only 12 cases have been described in medical literature
|deaths = -
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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.{{Cite web |title=Orphanet: Progressive myoclonic epilepsy type 6 |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=280620 |access-date=2022-06-16 |website=www.orpha.net |language=en}}{{Cite web |date=2021-03-21 |title=GOSR2-related progressive myoclonus ataxia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/3872/gosr2-related-progressive-myoclonus-ataxia |access-date=2022-06-16 |archive-date=2021-03-21 |archive-url=https://web.archive.org/web/20210321154552/https://rarediseases.info.nih.gov/diseases/3872/gosr2-related-progressive-myoclonus-ataxia |url-status=bot: unknown }}
According to OMIM,{{Cite web |title=OMIM Entry - # 614018 - Epilepsy, Progressive Myoclonic, 6; EPM6 |url=https://omim.org/entry/614018 |access-date=2022-06-16 |website=omim.org |language=en-us}} only 12 cases have been described in medical literature.{{Cite journal |last1=Corbett |first1=Mark A. |last2=Schwake |first2=Michael |last3=Bahlo |first3=Melanie |last4=Dibbens |first4=Leanne M. |last5=Lin |first5=Meng |last6=Gandolfo |first6=Luke C. |last7=Vears |first7=Danya F. |last8=O'Sullivan |first8=John D. |last9=Robertson |first9=Thomas |last10=Bayly |first10=Marta A. |last11=Gardner |first11=Alison E. |date=2011-05-13 |title=A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia |journal=American Journal of Human Genetics |volume=88 |issue=5 |pages=657–663 |doi=10.1016/j.ajhg.2011.04.011 |issn=1537-6605 |pmc=3146720 |pmid=21549339}}{{Cite journal |last1=van Egmond |first1=Martje E. |last2=Verschuuren-Bemelmans |first2=Corien C. |last3=Nibbeling |first3=Esther A. |last4=Elting |first4=Jan Willem J. |last5=Sival |first5=Deborah A. |last6=Brouwer |first6=Oebele F. |last7=de Vries |first7=Jeroen J. |last8=Kremer |first8=Hubertus P. |last9=Sinke |first9=Richard J. |last10=Tijssen |first10=Marina A. |last11=de Koning |first11=Tom J. |date=January 2014 |title=Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation |url=https://pubmed.ncbi.nlm.nih.gov/24458321/ |journal=Movement Disorders|volume=29 |issue=1 |pages=139–143 |doi=10.1002/mds.25704 |issn=1531-8257 |pmid=24458321|s2cid=22595640 }}{{Cite journal |last1=Praschberger |first1=Roman |last2=Balint |first2=Bettina |last3=Mencacci |first3=Niccolo E. |last4=Hersheson |first4=Joshua |last5=Rubio-Agusti |first5=Ignacio |last6=Kullmann |first6=Dimitri M. |last7=Bettencourt |first7=Conceição |last8=Bhatia |first8=Kailash |last9=Houlden |first9=Henry |date=September 2015 |title=Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene |journal=Movement Disorders Clinical Practice |volume=2 |issue=3 |pages=271–273 |doi=10.1002/mdc3.12190 |issn=2330-1619 |pmc=6178697 |pmid=30363482}} It is caused by autosomal recessive loss of function mutations in the (as the name implies) GOSR2 gene, in chromosome 17.