Quinidine sulfate therapy for the slow‐channel congenital myasthenic syndrome
- 1 April 1998
- journal article
- clinical trial
- Published by Wiley in Annals of Neurology
- Vol. 43 (4) , 480-484
- https://doi.org/10.1002/ana.410430411
Abstract
The slow‐channel congenital myasthenic syndrome (SCCMS) is caused by gain of function mutations in subunits of the end‐plate acetylcholine receptor (AChR). The mutations prolong the opening episodes of the AChR channel, leading to a depolarization block and an end‐plate myopathy. Because levels of quinidine sulfate attainable in clinical practice shorten the opening episodes of genetically engineered mutant SCCMS receptors in vitro, we tested the notion that the drug can be of benefit in SCCMS. We treated 6 SCCMS patients with quinidine sulfate in an open‐label trial, using objective clinical measures of muscle strength and repetitive stimulation studies as end points. One patient became allergic to quinidine after 7 days. The remaining patients tolerated the drug well and after 30 days of continuous therapy showed statistically significant improvement in muscle strength and in decrement of the compound muscle action potential elicited by repid rates of stimulation.Keywords
This publication has 11 references indexed in Scilit:
- Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α SubunitJournal of Neuroscience, 1997
- Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic SyndromeHuman Molecular Genetics, 1997
- New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndromeHuman Molecular Genetics, 1996
- A β‐subunit mutation in the acetylcholine receptor channel gate causes severe slow‐channel syndromeAnnals of Neurology, 1996
- Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmissionBrain Research, 1996
- Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinityNeuron, 1995
- Variables influencing neuropathic endpointsNeurology, 1995
- Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.Proceedings of the National Academy of Sciences, 1995
- The Rochester Diabetic Neuropathy StudyNeurology, 1991
- A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine‐induced ion channelAnnals of Neurology, 1982