Asymptomatic myotonia congenita unmasked by severe hypothyroidism

Passeri, Elena; Sansone, Valeria; Verdelli, Chiara; Mendola, Marco; Corbetta, Sabrina

doi:10.1016/j.nmd.2014.01.006

Cited by 9 publications

(7 citation statements)

References 11 publications

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“…One patient with DM1 and 1 patient with DM2, both nondiabetic, had mild asymptomatic sensory polyneuropathy according to nerve conduction study results. One patient with DM1 with an MIRS grade of 3 was found to have hyperthyroid at the time of testing and was subsequently excluded from analyses to exclude any potential effects on muscle excitability …”

Section: Resultsmentioning

confidence: 99%

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Sarcolemmal excitability in the myotonic dystrophies

Boland-Freitas

Lee

Howells³

et al. 2017

Muscle and Nerve

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Section: Resultsmentioning

confidence: 99%

“…One patient with DM1 with an MIRS grade of 3 was found to have hyperthyroid at the time of testing and was subsequently excluded from analyses to exclude any potential effects on muscle excitability. 21,22 Velocity Recovery Cycles. Table 2 details the results of MVRCs with 1 and 5 conditioning stimuli.…”

Section: Resultsmentioning

confidence: 99%

Sarcolemmal excitability in the myotonic dystrophies

Boland-Freitas

Lee

Howells³

et al. 2017

Muscle and Nerve

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“…CK elevation is common in myotonia congenita [75,[79][80][81][82][83][84][85][86][87] and may be present in paramyotonia congenita [88]. Inherited susceptibility to malignant hyperthermia syndrome (MHS) occurs in patients exposed to anesthetic agents causing increased body temperature, muscle rigidity or spasms, rhabdomyolysis, tachycardia, and other life-threatening symptoms [89].…”

Section: Ion Channel Myopathiesmentioning

confidence: 99%

Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

et al. 2021

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Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disorders to provide a practical approach to the diagnosis and the correct management of INMD. A considerable number of biomarkers have been reported that support the diagnosis of INMD, but the role of an expert clinician is crucial. Hence, the complete knowledge of such abnormalities can accelerate the diagnostic workup supporting the referral to specialists in neuromuscular disorders.

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“…Even if the severity of myotonia is mostly mild in DM2, this can be enhanced by the cooccurrence of mutations in CLCN1 and SCN4A observed in some DM2 patients or by concomitant endocrinological imbalances as hypothyroidism or pregnancy [35][36][37]. In cases where the myotonia is impairing patient's activities, the use of an anti-myotonic medication can be considered.…”

Section: Treatment Of Muscular Complaints Myotoniamentioning

confidence: 99%

Current Treatment Options for Patients with Myotonic Dystrophy Type 2

Montagnese

2021

Curr Treat Options Neurol

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Purpose of the review Myotonic dystrophy types 1 and 2 are frequent forms of muscular dystrophies in adulthood. Their clinical differences need to be taken into account for the most appropriate treatment of patients. The aim of this article is to provide an overview on the current and upcoming therapeutic options for patients with myotonic dystrophy type 2 (DM2). Recent findings At the moment, no disease-modifying therapies are available for DM2; next-generation therapies may however be available in the near future. In the meanwhile, the symptomatic management of patients has greatly improved, thank to the production of consensus-based standards of care and the growing evidence of efficacy of anti-myotonic drugs, promising employment of cannabinoids for symptom’s relief, regular monitoring, and early detection of treatable extra-muscular manifestations. Summary The treatment of DM2 is currently symptomatic and relies on the coordinated intervention of a multidisciplinary team. It remains to be determined whether upcoming causal therapies for myotonic dystrophy type 1 will be applicable also in DM2.

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Asymptomatic myotonia congenita unmasked by severe hypothyroidism

Cited by 9 publications

References 11 publications

Sarcolemmal excitability in the myotonic dystrophies

Sarcolemmal excitability in the myotonic dystrophies

Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

Current Treatment Options for Patients with Myotonic Dystrophy Type 2

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