Current Treatment Options for Peripheral Nerve Hyperexcitability Syndromes

Elangovan, Cheran; Morawo, Adeolu; Ahmed, Aiesha

doi:10.1007/s11940-018-0510-9

Cited by 8 publications

(5 citation statements)

References 79 publications

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“…8 Its persistence in sleep and normal electroencephalogram pegs the location of the pathology in the terminal axonal branches, hence central causes such as stiff person syndrome, seizures, or cerebellar lesions may be unlikely. 2,8 The unremarkable neoplastic workup, in addition to the absence of other autoimmune disorder signs and symptoms, render our patient to have a primary Isaac syndrome. This may also explain the negative anti-VGKC complex antibodies in our case because these are usually associated with small-cell lung cancer, thymoma, and autoimmune diseases.…”

Section: Discussionmentioning

confidence: 81%

“…1 Although this syndrome has been associated with anti-Voltage Gated K-Channels antibodies [antileucine-rich glial inactivated 1 (LGI-1) and anti-contactin-associated protein 2 (Caspr2) antibodies], the sensitivity of detecting this antibody is only 35%, and further confirmation is still guided by detection of spontaneous discharges such as fasciculations, myokymia, or neuromyotonia in electromyogram (EMG). 1,2 However, EMG is limited by its invasiveness and machine and specialist availability, especially in low-to-middleincome countries (LMIC). Thus, a new alternative diagnostic tool may be needed.…”

Section: Introductionmentioning

confidence: 99%

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Neuromuscular Ultrasound Findings of Myokymia in a Young Woman With Generalized Anti-LGI-1 and Anti-Caspr2 Antibodies Negative Isaac Syndrome

Prado,

Moalong,

Adiao

2023

Journal of Clinical Neuromuscular Disease

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Isaac syndrome is one of the rare peripheral nerve hyperexcitability (PNH) syndromes, which manifests with gross fasciculations, muscle undulation, twitching, and cramps, with or without autonomic and sensory symptoms. The diagnosis relies on characteristic electromyogram findings and the presence of anti–leucine-rich glial inactivated 1 and anti–contactin-associated protein 2 antibodies in the serum. Here, we report the case of a 21-year-old woman, who presented with extremities and tongue myokymia whose electromyogram findings were compatible with PNH, albeit seronegative for antibodies. Neuromuscular ultrasound was performed showing high-frequency rotatory, to-and-fro, high-amplitude movement of superficial and deep muscle fascicles, more prominent in the proximal than distal muscles. Neuromuscular ultrasound may be a useful adjunct in the diagnosis of PNH.

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Section: Discussionmentioning

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Neuromuscular Ultrasound Findings of Myokymia in a Young Woman With Generalized Anti-LGI-1 and Anti-Caspr2 Antibodies Negative Isaac Syndrome

Prado,

Moalong,

Adiao

2023

Journal of Clinical Neuromuscular Disease

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“…In fact, it could be the case that a denervation hypersensitivity following lasting intake of mexiletine triggered the symptoms occurring after the discontinuation of the drug, rather than inducing an autoimmune reactivation. [ 47 – 50 ] About that, experimental studies have shown that Na v are over-expressed beyond the nodal-paranodal sites in the growing and sprouting axons, as well as following functional denervation. Such a remodeling of Na v largely results in altered axonal and, consequently, muscle excitability.…”

Section: Discussionmentioning

confidence: 99%

Chronic inflammatory demyelinating polyradiculoneuropathy relapse after mexiletine withdrawal in a patient with concomitant myotonia congenita

et al. 2020

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Introduction: we report on the first case of a woman affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and recessive myotonia congenita (MC), treated with mexiletine. We aimed at describing the possible role of mexiletine in CIDP management. Patient Concerns: A 44-year-old female affected by CIDP and MC, gained beneficial effects for CIDP symptoms (muscle weakness, cramps, and fatigue) and relapses, after mexiletine intake (200 mg twice a day). The patient presented with detrimental effects after mexiletine drop out, with a worsening of CIDP symptoms. Interventions: The patient reported a nearly complete remission of muscle stiffness and weakness up to 3 years since mexiletine intake. Then, she developed an allergic reaction with glottis edema, maybe related to mexiletine intake, as per emergency room doctors’ evaluation, who suggested withdrawing the drug. Outcomes: The patient significantly worsened after the medication drop out concerning both CIDP and MC symptoms. Conclusion: This is the first report on the association of CIDP and MC in the same patient. Such diseases may share some clinical symptoms related to a persistent sodium currents increase, which maybe due either to the over-expression of sodium channels following axonal damage due to demyelination or to the chloride channel genes mutations. This is the possible reason why mexiletine maybe promising to treat CIDP symptoms.

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“…There were reports of good efficacy of sodium channel blockers such as carbamazepine and phenytoin in reducing muscle stiffness, twitching, and cramps [32]. Carbamazepine is usually preferred because it is easier to use and can be administered at increasing dosage until the resolution of symptoms, up to 1600 mg/ day [67]. Gabapentin and acetazolamide were also reported effective in case reports [68][69][70].…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

Autoimmune neuromyotonia

Comperat

Pégat

Honnorat

et al. 2022

Current Opinion in Neurology

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Purpose of reviewAutoimmune neuromyotonia encompasses a group of rare immune-mediated neurological disorders frequently associated with anti-contactin-associated protein-like 2 (CASPR2) antibodies and featuring clinical and electrical signs of peripheral nerve hyperexcitability (PNH). We aim to summarize the current knowledge on immune-mediated neuromyotonia, focusing on clinical presentations, pathophysiology, and management. Recent findingsNeuromyotonia is a major feature of several autoimmune neurological syndromes characterized by PNH with or without central neurological system involvement. Experimental and clinical evidence suggest that anti-CASPR2 antibodies are directly pathogenic in autoimmune neuromyotonia patients. SummaryNeuromyotonia, a form of PNH, is a major feature in several syndromes associated with anti-CASPR2 antibodies, including cramp-fasciculation syndrome, Isaacs syndrome, Morvan syndrome, and autoimmune limbic encephalitis. Diagnosis relies on the identification of motor, sensory, and autonomic signs of PNH along with other neurological symptoms, anti-CASPR2 antibody-positivity, and of characteristic electroneuromyographic abnormalities. Paraneoplastic associations with thymoma are possible, especially in Morvan syndrome. Patients usually respond to immune-active treatments, including steroids, intravenous immunoglobulins, plasma exchanges, and rituximab.

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Current Treatment Options for Peripheral Nerve Hyperexcitability Syndromes

Cited by 8 publications

References 79 publications

Neuromuscular Ultrasound Findings of Myokymia in a Young Woman With Generalized Anti-LGI-1 and Anti-Caspr2 Antibodies Negative Isaac Syndrome

Neuromuscular Ultrasound Findings of Myokymia in a Young Woman With Generalized Anti-LGI-1 and Anti-Caspr2 Antibodies Negative Isaac Syndrome

Chronic inflammatory demyelinating polyradiculoneuropathy relapse after mexiletine withdrawal in a patient with concomitant myotonia congenita

Autoimmune neuromyotonia

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