Skeletal Muscle Channelopathies

Phillips, Lauren; Trivedi, Jaya

doi:10.1007/s13311-018-00678-0

Cited by 44 publications

(59 citation statements)

References 111 publications

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“…Given its potential to cause arrhythmias, patients should undergo monitoring with electrocardiogram. 8 Patients with PMC have normal lifespan and do not have systemic extramuscular involvement in contrast to myotonic dystrophy. 7 In the surgical setting, myotonia may be triggered by specific induction agents causing intubation difficulties and volatile agents can lead to postoperative shivering and then myotonia.…”

Section: Discussionmentioning

confidence: 99%

Clinical Reasoning: A 10-year-old girl with muscle stiffness

Prior

Ghosh

2020

Neurology

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A 10-year-old girl presented with episodic muscle stiffness for 4 years. Her muscles stiffened and became difficult to move with exertion, such as her legs after 30 minutes of playing soccer and her hands while carrying grocery bags. Symptoms were also provoked by cold temperature, such as swimming in a cold pool. After eating ice cream, she had difficulty speaking. She sometimes had persistent muscle stiffness for days after an episode. The patient had normal development and no significant medical history. Her father had a history of leg stiffness after playing soccer that started in his teens. On examination, she had normal muscle bulk and tone, with Medical Research Council 5/5 strength throughout bilateral proximal and distal extremity muscles. With tight grip of the hand and closure of the eyes, the patient had delayed relaxation of finger flexors and ocular muscles. Percussion of the thenar muscles, extensor digitorum communis, biceps, and gastrocnemius also provoked sustained muscle contraction. Reflexes were 2+ and symmetric throughout and toes were downgoing. The remaining neurologic examination was unremarkable. Questions for consideration: 1. What is the differential diagnosis? 2. What diagnostic testing should be considered? GO TO SECTION 2

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Section: Discussionmentioning

confidence: 99%

Clinical Reasoning: A 10-year-old girl with muscle stiffness

Prior

Ghosh

2020

Neurology

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“…The human "channelome" contains over 300 known channels [1] that selectively and rapidly transport ions across biological membranes in response to specific stimuli. Ion channels are present on the plasma membranes and organelles of all cells, where they regulate organelle ion homeostasis, mitochondrial function, inflammasome activation, action potential firing, membrane potential, cell volume, and autophagy [2][3][4][5]. Given their importance, it follows that their dysfunctions leads to human diseases, termed channelopathies [6].…”

Section: Introductionmentioning

confidence: 99%

“…Given their importance, it follows that their dysfunctions leads to human diseases, termed channelopathies [6]. These include disease states of the nervous [2], musculoskeletal [5], cardiovascular [7], and immune systems [8]. This has motivated research on compounds that can modulate ion channel activity;~19% of current FDA-approved drugs are ion channel modulators, second only to drugs targeting G-protein coupled receptors [9,10].…”

Section: Introductionmentioning

confidence: 99%

Ion Channels as Therapeutic Targets for Viral Infections: Further Discoveries and Future Perspectives

Charlton

Pearson

Hover

et al. 2020

Viruses

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Ion channels play key roles in almost all facets of cellular physiology and have emerged as key host cell factors for a multitude of viral infections. A catalogue of ion channel-blocking drugs have been shown to possess antiviral activity, some of which are in widespread human usage for ion channel-related diseases, highlighting new potential for drug repurposing. The emergence of ion channel–virus interactions has also revealed the intriguing possibility that channelopathies may explain some commonly observed virus induced pathologies. This field is rapidly evolving and an up-to-date summary of new discoveries can inform future perspectives. We herein discuss the role of ion channels during viral lifecycles, describe the recently identified ion channel drugs that can inhibit viral infections, and highlight the potential contribution of ion channels to virus-mediated disease.

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“…Non-dystrophic myotonias are due to loss-of-function mutations in the voltage-gated chloride ClC-1 channel, encoded by the CLCN1 gene, or gain-of-function mutations in the voltage-gated sodium Nav1.4 channel, encoded by the SCN4A gene (1)(2)(3). These are rare disorders, with a prevalence of < 1:100,000, characterized by clinical and electrophysiological myotonia, which is lifelong and impact quality of life.…”

Section: Introductionmentioning

confidence: 99%

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

et al. 2020

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The aim of our study was to evaluate the long-term efficacy and safety of mexiletine in 112 patients affected by genetically confirmed non-dystrophic myotonias. The study was performed at the Neurophysiologic Division of Fondazione Policlinico Universitario A. Gemelli Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Rome and the Children's Hospital Bambino Gesù, Rome. Methods: The treatment was accepted by 59 patients according to clinical severity, individual needs, and concerns about a chronic medication. Forty-three patients were affected by recessive congenita myotonia, 11 by sodium channel myotonia, and five by dominant congenital myotonia. They underwent clinical examination before and after starting therapy, and Electromyography (EMG). A number of recessive myotonia patients underwent a protocol of repetitive nerve stimulations, for detecting and quantifying the transitory weakness, and a modified version of the Timed Up and Go test, to document and quantify the gait impairment. Results: Treatment duration ranged from 1 month to 20 years and the daily dosages in adults ranged between 200 and 600 mg. No patient developed cardiac arrhythmias causing drug discontinuation. Mexiletine was suspended in 13 cases (22%); in three patients, affected by Sodium Channel myotonia, because flecainide showed better efficacy; in one patient because of a gastric cancer antecedent treatment; in four patients because of untreatable dyspepsia; and five patients considered the treatment not necessary. Conclusions: In our experience, mexiletine is very useful and not expensive. We did not observe any hazarding cardiac arrhythmias. Dyspepsia was the most frequent dose-limiting side effect.

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Skeletal Muscle Channelopathies

Cited by 44 publications

References 111 publications

Clinical Reasoning: A 10-year-old girl with muscle stiffness

Clinical Reasoning: A 10-year-old girl with muscle stiffness

Ion Channels as Therapeutic Targets for Viral Infections: Further Discoveries and Future Perspectives

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

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