Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-03-05

AUTHORS

Fabian Rossi, Joe Ma, Nina Tsakadze, Lourdes Benes-Lima, Julio Araque Gonzalez, Michael Hoffmann

ABSTRACT

BackgroundSpinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation.Case presentationWe describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin.ConclusionsThis is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin. More... »

PAGES

10

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s40673-021-00131-7

DOI

http://dx.doi.org/10.1186/s40673-021-00131-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1136045879

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/33673860


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