Quinine sulfate as a therapeutic option in a patient with Slow channel congenital myasthenic syndrome

被引：7

作者：

Peyer, Anne-Kathrin ^{[1
]}

Abicht, Angela ^{[2
,3
]}

Heinimann, Karl ^{[4
]}

Sinnreich, Michael ^{[1
]}

Fischer, Dirk ^{[1
,5
]}

机构：

[1] Univ Basel Hosp, Dept Neurol & Biomed, CH-4056 Basel, Switzerland

[2] Univ Munich, Med Genet Zentrum Munchen, Munich, Germany

[3] Univ Munich, Friedrich Baur Inst, Munich, Germany

[4] Univ Childrens Hosp Basel, Div Med Genet, Basel, Switzerland

[5] Univ Childrens Hosp Basel, Div Neuropaediat, Basel, Switzerland

来源：

NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 07期

关键词：

Congenital myasthenic syndrome; Slow channel congenital myasthenic syndrome; Nicotinic acetylcholine receptor; Quinine sulfate; QUINIDINE;

D O I：

10.1016/j.nmd.2013.04.001

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Slow channel congenital myasthenic syndrome is caused by a genetically determined kinetic anomaly of the acetylcholine receptor at the neuromuscular junction leading to its prolonged open state. Patients typically present with fatigability and static weakness of neck, hand and finger extensors. The open-channel blockers fluoxetine and quinidine have been used as standard treatment, although the former is limited by its side effects. We describe a patient with a novel "de novo" mutation in the at subunit of acetylcholine receptor with clinical and electrophysiological hallmarks of the disease. The patient showed marked treatment response to fluoxetine as well as quinine, a stereoisomer of quinidine, expanding the treatment options for this hereditary disorder. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：571 / 574

页数：4

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