Zonisamidkezelés myoclonusdystoniában

Translated title of the contribution: Zonisamide treatment in myoclonus-dystonia

Salamon András, Zádori Dénes, Horváth Emese, L. Vécsei, P. Klivényi

Research output: Contribution to journalArticle

Abstract

Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the SGCE gene. Causative therapy is not available currently. Regarding symptomatic treatment, zonisamide, insulin therapy, carbamazepine and zolpidem may be utilized. If these drugs are not effective, bilateral globus pallidus internus deep brain stimulation may come into consideration. The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetically proven myoclonus-dystonia. Our 25-year-old female patient has had jerky, lightning-like movements since her childhood, mainly localized to her right upper limb. In addition, muscle cramps associated with writing and walking were also present. The symptoms were reduced by alcohol consumption. Brain MRI did not show any abnormality. Neurophysiological studies raised the possibility of subcortical myoclonus. After detailed phenotyping, genetic testing was performed, yielding the diagnosis of myoclonus-dystonia. A heterozygous mutation in the 6th exon of the SGCE gene at the position 709, resulting in an early stop codon (c.709C> T, p.Arg237*) was demonstrated. After considering the risk-benefit ratio, we decided to start zonisamide treatment. The dose was titrated gradually to 300 mg/d over 6 weeks. Myoclonus- and dystonia-specific tests demonstrated significant improvement compared to the pre-treatment status. The aim of this case report is to draw attention to this rare condition, its treatment and the importance of collaboration between medical subspecialties.

Original languageHungarian
Pages (from-to)1353-1357
Number of pages5
JournalOrvosi hetilap
Volume160
Issue number34
DOIs
Publication statusPublished - Jan 1 2019

Fingerprint

zonisamide
Therapeutics
Lightning
Muscle Cramp
Mutation
Myoclonus
Globus Pallidus
Deep Brain Stimulation
Gene Order
Terminator Codon
Carbamazepine
Genetic Testing
Upper Extremity
Alcohol Drinking
Walking
Myoclonic dystonia
Exons
Odds Ratio

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Zonisamidkezelés myoclonusdystoniában. / András, Salamon; Dénes, Zádori; Emese, Horváth; Vécsei, L.; Klivényi, P.

In: Orvosi hetilap, Vol. 160, No. 34, 01.01.2019, p. 1353-1357.

Research output: Contribution to journalArticle

András, Salamon ; Dénes, Zádori ; Emese, Horváth ; Vécsei, L. ; Klivényi, P. / Zonisamidkezelés myoclonusdystoniában. In: Orvosi hetilap. 2019 ; Vol. 160, No. 34. pp. 1353-1357.
@article{64753bc71e2f4cf18084fac5e73fc4ac,
title = "Zonisamidkezel{\'e}s myoclonusdystoni{\'a}ban",
abstract = "Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the SGCE gene. Causative therapy is not available currently. Regarding symptomatic treatment, zonisamide, insulin therapy, carbamazepine and zolpidem may be utilized. If these drugs are not effective, bilateral globus pallidus internus deep brain stimulation may come into consideration. The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetically proven myoclonus-dystonia. Our 25-year-old female patient has had jerky, lightning-like movements since her childhood, mainly localized to her right upper limb. In addition, muscle cramps associated with writing and walking were also present. The symptoms were reduced by alcohol consumption. Brain MRI did not show any abnormality. Neurophysiological studies raised the possibility of subcortical myoclonus. After detailed phenotyping, genetic testing was performed, yielding the diagnosis of myoclonus-dystonia. A heterozygous mutation in the 6th exon of the SGCE gene at the position 709, resulting in an early stop codon (c.709C> T, p.Arg237*) was demonstrated. After considering the risk-benefit ratio, we decided to start zonisamide treatment. The dose was titrated gradually to 300 mg/d over 6 weeks. Myoclonus- and dystonia-specific tests demonstrated significant improvement compared to the pre-treatment status. The aim of this case report is to draw attention to this rare condition, its treatment and the importance of collaboration between medical subspecialties.",
keywords = "Alcohol-responsive dystonia, Myoclonus-dystonia, SGCE, Zonisamide",
author = "Salamon Andr{\'a}s and Z{\'a}dori D{\'e}nes and Horv{\'a}th Emese and L. V{\'e}csei and P. Kliv{\'e}nyi",
year = "2019",
month = "1",
day = "1",
doi = "10.1556/650.2019.31472",
language = "Hungarian",
volume = "160",
pages = "1353--1357",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "34",

}

TY - JOUR

T1 - Zonisamidkezelés myoclonusdystoniában

AU - András, Salamon

AU - Dénes, Zádori

AU - Emese, Horváth

AU - Vécsei, L.

AU - Klivényi, P.

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the SGCE gene. Causative therapy is not available currently. Regarding symptomatic treatment, zonisamide, insulin therapy, carbamazepine and zolpidem may be utilized. If these drugs are not effective, bilateral globus pallidus internus deep brain stimulation may come into consideration. The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetically proven myoclonus-dystonia. Our 25-year-old female patient has had jerky, lightning-like movements since her childhood, mainly localized to her right upper limb. In addition, muscle cramps associated with writing and walking were also present. The symptoms were reduced by alcohol consumption. Brain MRI did not show any abnormality. Neurophysiological studies raised the possibility of subcortical myoclonus. After detailed phenotyping, genetic testing was performed, yielding the diagnosis of myoclonus-dystonia. A heterozygous mutation in the 6th exon of the SGCE gene at the position 709, resulting in an early stop codon (c.709C> T, p.Arg237*) was demonstrated. After considering the risk-benefit ratio, we decided to start zonisamide treatment. The dose was titrated gradually to 300 mg/d over 6 weeks. Myoclonus- and dystonia-specific tests demonstrated significant improvement compared to the pre-treatment status. The aim of this case report is to draw attention to this rare condition, its treatment and the importance of collaboration between medical subspecialties.

AB - Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the SGCE gene. Causative therapy is not available currently. Regarding symptomatic treatment, zonisamide, insulin therapy, carbamazepine and zolpidem may be utilized. If these drugs are not effective, bilateral globus pallidus internus deep brain stimulation may come into consideration. The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetically proven myoclonus-dystonia. Our 25-year-old female patient has had jerky, lightning-like movements since her childhood, mainly localized to her right upper limb. In addition, muscle cramps associated with writing and walking were also present. The symptoms were reduced by alcohol consumption. Brain MRI did not show any abnormality. Neurophysiological studies raised the possibility of subcortical myoclonus. After detailed phenotyping, genetic testing was performed, yielding the diagnosis of myoclonus-dystonia. A heterozygous mutation in the 6th exon of the SGCE gene at the position 709, resulting in an early stop codon (c.709C> T, p.Arg237*) was demonstrated. After considering the risk-benefit ratio, we decided to start zonisamide treatment. The dose was titrated gradually to 300 mg/d over 6 weeks. Myoclonus- and dystonia-specific tests demonstrated significant improvement compared to the pre-treatment status. The aim of this case report is to draw attention to this rare condition, its treatment and the importance of collaboration between medical subspecialties.

KW - Alcohol-responsive dystonia

KW - Myoclonus-dystonia

KW - SGCE

KW - Zonisamide

UR - http://www.scopus.com/inward/record.url?scp=85071336866&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85071336866&partnerID=8YFLogxK

U2 - 10.1556/650.2019.31472

DO - 10.1556/650.2019.31472

M3 - Article

VL - 160

SP - 1353

EP - 1357

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 34

ER -