Paroxysmal exercise induced dyskinesia and writer’s cramps in twin siblings with SLC2A1 mutation
DOI:
https://doi.org/10.18203/2320-6012.ijrms20221499Keywords:
Paroxysmal exercise induced dyskinesia, SLCA2A1 mutation, Writer’s crampsAbstract
Paroxysmal exercise induced dyskinesias (PED) are rare disorders with recurring episodes of sudden involuntary movement disorders precipitated by physical exercise. It had been reported that less than 20% of PED patients carry an SLC2A1 mutation encoding GLUT 1 of whom 49 patients have been identified worldwide We hereby reported a case of twin siblings, 23 year old male with no antecedent other past illness and family history presenting with writer’s cramps and paroxysmal exercise induced dyskinesia attributed to milder phenotype of glucose transporter type 1 deficiency with the heterozygous exon-6 SLC2A1 gene mutation. Ketogenic diet in these patients may help in these cases.
References
Bhatia KP. Paroxysmal dyskinesias. Mov Disord 2011;26:1157-65.
Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E et al. The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain. 2015;138:3567-80.
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W et al. Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China. Transl Neurodegener. 2021;10:7.
Wang HX, Li HF, Liu GL, Wen XD, Wu ZY. Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. Chin Med J (Engl). 2016;129:1017-21.
Erro R, Sheerin UM, Bhatia KP. Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord. 2014;29:1108-16.
De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood–brain barrier as a cause of persistent hypoglycorrhachia, seizures and developmental delay. N Engl J Med. 1991;325:703-9.
Messana T, Russo A, Vergaro R, Boni A, Santucci M, Pini A. Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene. J Pediatr Neurosci. 2018;13:496-9.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133:655-70.
Veggiotti P, Teutonico F, Alfei E, Nardocci N, Zorzi G, Tagliabue A et al. Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype. Brain Dev. 2010;32:404-8.
Klepper J. Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. Curr Opin Neurol. 2004;17:193-6.
