Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report

Joekie M. Markhorst; Bas C. Stunnenberg; Ieke B. Ginjaar; Gea Drost; Corrie E. Erasmus; Lilian T. L. Sie

doi:10.1016/j.pediatrneurol.2014.05.027

Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report

Joekie M. Markhorst
, Bas C. Stunnenberg^*
, Ieke B. Ginjaar
, Gea Drost
, Corrie E. Erasmus
, Lilian T. L. Sie

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

21 Citations (Scopus)

Abstract

BACKGROUND: Today, treatment of the nondystrophic myotonias consists of mexiletine, although care has to be taken because of the proarrhythmogenic potential of this drug. In this article, we report years of experience with the carbonic anhydrase inhibitor acetazolamide.

PATIENTS: We present three children with nondystrophic myotonias.

RESULTS: During acetazolamide treatment, symptoms and signs of myotonia decreased in our children.

CONCLUSIONS: Based on this clinical experience and the favorable pharmacologic profile of acetazolamide, it may be a good treatment option for children with nondystrophic myotonias.

Original language	English
Pages (from-to)	537-541
Number of pages	5
Journal	Pediatric neurology
Volume	51
Issue number	4
DOIs	https://doi.org/10.1016/j.pediatrneurol.2014.05.027
Publication status	Published - Oct-2014

Keywords

carbonic anhydrase inhibitor
skeletal muscle channelopathies
medication
SCN4A
CLCN1
L703P
A186V
L689F
PARAMYOTONIA-CONGENITA
PERIODIC PARALYSIS
MEXILETINE
MUTATION
CHANNEL
CARBAMAZEPINE

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@article{42b9211d8a4346fdb3e2b485d6e5798f,

title = "Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report",

abstract = "BACKGROUND: Today, treatment of the nondystrophic myotonias consists of mexiletine, although care has to be taken because of the proarrhythmogenic potential of this drug. In this article, we report years of experience with the carbonic anhydrase inhibitor acetazolamide.PATIENTS: We present three children with nondystrophic myotonias.RESULTS: During acetazolamide treatment, symptoms and signs of myotonia decreased in our children.CONCLUSIONS: Based on this clinical experience and the favorable pharmacologic profile of acetazolamide, it may be a good treatment option for children with nondystrophic myotonias.",

keywords = "carbonic anhydrase inhibitor, skeletal muscle channelopathies, medication, SCN4A, CLCN1, L703P, A186V, L689F, PARAMYOTONIA-CONGENITA, PERIODIC PARALYSIS, MEXILETINE, MUTATION, CHANNEL, CARBAMAZEPINE",

author = "Markhorst, \{Joekie M.\} and Stunnenberg, \{Bas C.\} and Ginjaar, \{Ieke B.\} and Gea Drost and Erasmus, \{Corrie E.\} and Sie, \{Lilian T. L.\}",

year = "2014",

month = oct,

doi = "10.1016/j.pediatrneurol.2014.05.027",

language = "English",

volume = "51",

pages = "537--541",

journal = "Pediatric neurology",

issn = "0887-8994",

publisher = "ELSEVIER SCIENCE INC",

number = "4",

}

TY - JOUR

T1 - Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias

T2 - a three-case report

AU - Markhorst, Joekie M.

AU - Stunnenberg, Bas C.

AU - Ginjaar, Ieke B.

AU - Drost, Gea

AU - Erasmus, Corrie E.

AU - Sie, Lilian T. L.

PY - 2014/10

Y1 - 2014/10

N2 - BACKGROUND: Today, treatment of the nondystrophic myotonias consists of mexiletine, although care has to be taken because of the proarrhythmogenic potential of this drug. In this article, we report years of experience with the carbonic anhydrase inhibitor acetazolamide.PATIENTS: We present three children with nondystrophic myotonias.RESULTS: During acetazolamide treatment, symptoms and signs of myotonia decreased in our children.CONCLUSIONS: Based on this clinical experience and the favorable pharmacologic profile of acetazolamide, it may be a good treatment option for children with nondystrophic myotonias.

AB - BACKGROUND: Today, treatment of the nondystrophic myotonias consists of mexiletine, although care has to be taken because of the proarrhythmogenic potential of this drug. In this article, we report years of experience with the carbonic anhydrase inhibitor acetazolamide.PATIENTS: We present three children with nondystrophic myotonias.RESULTS: During acetazolamide treatment, symptoms and signs of myotonia decreased in our children.CONCLUSIONS: Based on this clinical experience and the favorable pharmacologic profile of acetazolamide, it may be a good treatment option for children with nondystrophic myotonias.

KW - carbonic anhydrase inhibitor

KW - skeletal muscle channelopathies

KW - medication

KW - SCN4A

KW - CLCN1

KW - L703P

KW - A186V

KW - L689F

KW - PARAMYOTONIA-CONGENITA

KW - PERIODIC PARALYSIS

KW - MEXILETINE

KW - MUTATION

KW - CHANNEL

KW - CARBAMAZEPINE

U2 - 10.1016/j.pediatrneurol.2014.05.027

DO - 10.1016/j.pediatrneurol.2014.05.027

M3 - Article

C2 - 25042881

SN - 0887-8994

VL - 51

SP - 537

EP - 541

JO - Pediatric neurology

JF - Pediatric neurology

IS - 4

ER -

Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report

Abstract

Keywords

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