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.
Highlights
Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation
Spinocerebellar Ataxia type 2 (SCA2) is a neurodegenerative ataxia with a heterogeneous clinical presentation, including both cerebellar and non-cerebellar features. Neuromuscular features such as cramps, fasciculations, and amyotrophy were often described within the spectrum of SCA2, but rhabdomyolysis has not been reported previously
We report a case of SCA2 with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin
Summary
Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. Background Spinocerebellar Ataxia type 2 (SCA2) is a neurodegenerative ataxia with a heterogeneous clinical presentation, including both cerebellar (ataxia, dysarthria, slow horizontal saccades and dysmetria) and non-cerebellar features (peripheral neuropathy; extrapyramidal symptoms, sleep and cognitive disorders). Neuromuscular features such as cramps, fasciculations, and amyotrophy were often described within the spectrum of SCA2, but rhabdomyolysis has not been reported previously.
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