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

BACKGROUND: Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. CASE PRESENTATION: We describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Init...

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Detalles Bibliográficos
Autores principales: Rossi, Fabian, Ma, Joe, Tsakadze, Nina, Benes-Lima, Lourdes, Gonzalez, Julio Araque, Hoffmann, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934527/
https://www.ncbi.nlm.nih.gov/pubmed/33673860
http://dx.doi.org/10.1186/s40673-021-00131-7
Descripción
Sumario:BACKGROUND: Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. CASE PRESENTATION: We 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. CONCLUSIONS: This is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin.

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