2007
DOI: 10.1016/j.nurt.2007.01.011
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Clinical Evaluation of Membrane Excitability in Muscle Channel Disorders: Potential Applications in Clinical Trials

Abstract: Summary:Muscle channelopathies are inherited disorders that cause paralysis and myotonia. Molecular technology has contributed immeasurably to diagnostic testing, to correlation of genotype with phenotype, and to insight into the pathophysiology of these disorders. In most cases, the diagnosis of muscle channelopathy is still made on clinical grounds, but is supported by ancillary laboratory and electrodiagnostic testing such as serum potassium measurement, exercise testing, repetitive nerve stimulation, needl… Show more

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Cited by 9 publications
(6 citation statements)
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“…Although in routine clinical practice, decrement is most commonly found in disorders of the neuromuscular junction, decrement of the CMAP amplitude with RNS has been found in muscle channelopathies 3. In these conditions, the decrement is related to the underlying abnormalities of muscle 24.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Although in routine clinical practice, decrement is most commonly found in disorders of the neuromuscular junction, decrement of the CMAP amplitude with RNS has been found in muscle channelopathies 3. In these conditions, the decrement is related to the underlying abnormalities of muscle 24.…”
Section: Discussionmentioning
confidence: 99%
“…Short trains of repetitive nerve stimulation (RNS) are widely utilized to evaluate disorders of neuromuscular transmission. To perform studies of the compound muscle action potential (CMAP) scan and stimulus–response curve, and in some methods of RNS, longer trains of stimuli are delivered to peripheral nerves 1–3. In these studies, it is assumed that the effects of each stimulus are independent of previous stimuli 4.…”
mentioning
confidence: 99%
“…There are limited data on detection rates of CLCN1 and SCN4A variants in patients for whom there is a high clinical suspicion of NDM. One group reported the false‐negative rate to be as high as 20% in 2007 71 . However, in a large cohort of Dutch families with suspected NDMs (54 families), 70 in‐tandem single gene sequencing analysis identified at least one variant in 100% of cases.…”
Section: Diagnosismentioning
confidence: 99%
“…[14][15][16] Electrodiagnosis of NDM Commercial genetic testing is available for some of the causative mutations in NDM, but there is a false-negative rate in these conditions as high as 20%. 17 Electrodiagnostic studies are extremely helpful in directing genetic testing and also making the diagnosis of NDM in patients with negative genetic testing. Evidence of membrane hyperexcitability (eg, myotonic discharges) is sought with needle EMG examination, whereas evidence of membrane inexcitability (eg, drop in motor response amplitude) is investigated with long and short exercise testing.…”
Section: Sodium Channel Myotonias (Group 2 Scm)mentioning
confidence: 99%