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

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

doi:10.1186/s40673-021-00131-7

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

Cerebellum Ataxias. 2021 Mar 5;8(1):10. doi: 10.1186/s40673-021-00131-7.

Authors

Fabian Rossi^{1

2}, Joe Ma³, Nina Tsakadze^{4

5}, Lourdes Benes-Lima⁴, Julio Araque Gonzalez⁶, Michael Hoffmann^{4

5}

Affiliations

¹ Department of Neurology, Orlando VA Medical Center, 32827, Orlando, FL, USA. Fabian.Rossi@va.gov.
² Department of Neurology, University of Central Florida Medical School, 32827, Orlando, FL, USA. Fabian.Rossi@va.gov.
³ Department of Pathology, Director Neuromuscular Department, Florida Hospital, 32803, Orlando, FL, USA.
⁴ Department of Neurology, Orlando VA Medical Center, 32827, Orlando, FL, USA.
⁵ Department of Neurology, University of Central Florida Medical School, 32827, Orlando, FL, USA.
⁶ Department of Neuroradiology, Orlando VA Medical Center, 32827, Orlando, FL, USA.

Abstract

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.

Keywords: Cramps; Pregabalin; Rhabdomyolysis; Spinocerebellar ataxia.