非萎缩性肌强直的药物治疗
Pharmacological therapy of non-dystrophic myotonias.
作者信息
Saltarella Ilaria, Laghetti Paola, Dell'Atti Simone, Altamura Concetta, Desaphy Jean-François
机构信息
Section of Pharmacology, Department of Precision and Regenerative Medicine and Ionian Area, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
出版信息
Acta Myol. 2025 Mar;44(1):23-27. doi: 10.36185/2532-1900-1026.
OBJECTIVES
Non-dystrophic myotonias (NDM) are rare diseases due to mutations in the voltage-gated sodium (Nav1.4) and chloride (ClC-1) channels expressed in skeletal muscle fibers. We provide an up-to-date review of pharmacological treatments available for NDM patients and experimental studies aimed at identifying alternative treatments and at better understanding the mechanisms of actions.
METHODS
Literature research was performed using PubMed and ClinicalTrial.gov.
RESULTS
Today, the sodium channel blocker mexiletine is the drug of choice for treatment of NDM. Alternative drugs include other sodium channel blockers and the carbonic anhydrase inhibitor acetazolamide. Preclinical studies suggest that activators of ClC-1 channels or voltage-gated potassium channels may have antimyotonic potential.
CONCLUSIONS
An increasing number of antimyotonic drugs would help to design a precision therapy to address personalized treatment of myotonic individuals.
目的
非营养不良性肌强直（NDM）是一种罕见疾病，由骨骼肌纤维中表达的电压门控钠通道（Nav1.4）和氯通道（ClC-1）突变引起。我们对NDM患者可用的药物治疗以及旨在确定替代治疗方法并更好地理解作用机制的实验研究进行了最新综述。
方法
使用PubMed和ClinicalTrial.gov进行文献研究。
结果
如今，钠通道阻滞剂美西律是治疗NDM的首选药物。替代药物包括其他钠通道阻滞剂和碳酸酐酶抑制剂乙酰唑胺。临床前研究表明，ClC-1通道或电压门控钾通道的激活剂可能具有抗肌强直潜力。
结论
越来越多的抗肌强直药物将有助于设计精准疗法，以针对肌强直个体进行个性化治疗。
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