Genetic rhabdomyolysis within the spectrum of the Spinocerebellar Ataxia type 2 responsive to pregabalin.
Cramps
Pregabalin
Rhabdomyolysis
Spinocerebellar ataxia
Journal
Cerebellum & ataxias
ISSN: 2053-8871
Titre abrégé: Cerebellum Ataxias
Pays: England
ID NLM: 101648460
Informations de publication
Date de publication:
05 Mar 2021
05 Mar 2021
Historique:
received:
24
12
2020
accepted:
15
02
2021
entrez:
6
3
2021
pubmed:
7
3
2021
medline:
7
3
2021
Statut:
epublish
Résumé
Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical 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. 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.
Sections du résumé
BACKGROUND
BACKGROUND
Spinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation.
CASE PRESENTATION
METHODS
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
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.
Identifiants
pubmed: 33673860
doi: 10.1186/s40673-021-00131-7
pii: 10.1186/s40673-021-00131-7
pmc: PMC7934527
doi:
Types de publication
Journal Article
Langues
eng
Pagination
10Références
Neuromuscul Disord. 2003 Jan;13(1):68-71
pubmed: 12467735
Ann Hepatol. 2014 Jul-Aug;13(4):452-5
pubmed: 24927617
Neurology. 2000 Sep 26;55(6):800-5
pubmed: 10993999
Neurology. 1990 Sep;40(9):1369-75
pubmed: 2392220
Ann Clin Transl Neurol. 2017 Aug 10;4(9):687-695
pubmed: 28904990
Muscle Nerve. 2014 Mar;49(3):351-6
pubmed: 23836298
Cleve Clin J Med. 2016 Jan;83(1):37-42
pubmed: 26760521
Neurology. 2005 Mar 22;64(6):1073-5
pubmed: 15781833
Noro Psikiyatr Ars. 2017 Jun;54(2):183-186
pubmed: 28680318
Neurology. 2011 Sep 13;77(11):1055-60
pubmed: 21880993
QJM. 2000 Jan;93(1):29-33
pubmed: 10623779
Arthritis Rheum. 1999 Oct;42(10):2204-12
pubmed: 10524695
Front Neurol. 2017 Sep 11;8:472
pubmed: 28955296