Exercise test in muscle channelopathies and other muscle disorders

Küntzer, Thierry; Flocard, F.; Vial, Christophe; Kohler, André; Magistris,; Labarre-Vila, Annick; Gonnaud, Pierre-Marie; Ochsner, François; Soichot, P.; Chan, Victor; Monnier, G.

doi:10.1002/1097-4598(200007)23:7<1089::aid-mus12>3.0.co;2-q

Cited by 85 publications

(78 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Exercise acts as provocative tests and provides information on the ability of active fibers to depolarize and repolarize. Abnormal CMAP amplitude is observed in approximately 70% to 80% of patients with periodic paralysis (19,20). The electrophysiological pattern observed in our patients (pattern V; CMAP declines after long exercise without preliminary increment) is more frequently associated with mutations in Ca 2ϩ or K ϩ channel CACNA1A, KCNJ2, and SCN4A genes (13,21,22).…”

Section: Discussionmentioning

confidence: 99%

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

Faguer¹,

Chauveau²,

Pascal³

et al. 2011

Clinical Journal of the American Society of Nephrology

View full text Add to dashboard Cite

SummaryBackground and objectives The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations.Design, setting, participants, & measurements Medical records of three patients from two French unrelated families with CLDN19 mutations were retrospectively examined.Results Direct sequencing of CLDN19 identified a known variant (p.Gly20Asp) in all patients and a new missense mutation (p.Val44Met) in one (compound heterozygous). The patients' renal phenotype closely mimicked CLDN16-related nephropathy: low serum Mg 2ϩ (Ͻ0.65 mmol/L) despite oral supplementation, hypercalciuria partly thiazide-sensitive, and progressive renal decline with ESRD reached at age 16 and 22 years in two individuals. Primary characteristics (failure to thrive, recurrent urinary tract infections, or abdominal pain), age at onset (0.8 to 16 years), and rate of renal decline were highly heterogeneous. Ocular involvement was identified in all patients, although two patients did not have visual loss. Additionally, exercise intolerance with pain, weakness, and electromyographical alterations mimicking a Ca 2ϩ /K ϩ channelopathy (pattern V) were observed in two of three individuals. These features persisted despite the normalization of serum K ϩ and Mg 2ϩ after renal transplantation.Conclusions Ocular manifestations, even subtle, and exercise intolerance mimicking mild to moderate periodic paralysis are two symptoms that need to be searched for in patients with FHHNC and may indicate CLDN19 mutations.

show abstract

Section: Discussionmentioning

confidence: 99%

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

Faguer¹,

Chauveau²,

Pascal³

et al. 2011

Clinical Journal of the American Society of Nephrology

View full text Add to dashboard Cite

show abstract

“…2nd Op was performed at 90 days to obtain intraoperative clinical proof of reinnervation of the transplant and muscular nerve from the spine to the NMJ. Direct (CMAPs) was conducted (Biomed ® , Nicolet Biomedical, Madison, WI) (Figures 3&4&5) [43,44]. Oro-pharyngeal intubation for artificial ventilation was performed only when Vecuronium ® was to be administered with respect the type of reinnervation/ neurotransmission in rats (No 19 NaCl, 21 CERE, 28 CERE, 29 Na Cl).…”

Section: Synopsis Of the Medicationmentioning

confidence: 47%

“…(Figures 4 and 5) were performed to identify the skeletal muscle nerve intraoperatively before bisection and subsequently to prove functional reinnervation by CAMP. Vecuronium administered to 4 rats at random showed co-transmission following reinnervation IOAM [42][43][44]. …”

Section: Synopsis Of the Medicationmentioning

confidence: 99%

New Aspects of Graft-induced Central Plasticity and Neuroregeneration at T 10 in a Rat Model†

Wild¹,

Cătoi²,

Wild³

et al. 2017

J Neurol Neurophysiol

View full text Add to dashboard Cite

Objective: Retest Brunelli's graft induced glutamate neurotransmitter switch at the neuromuscular junction in rat for the translation of new aspects of central plasticity concepts for human reconstructive surgery in spinal cord lesions. Methods:Randomized double blind controlled study in rat, which was limited to 30 animals (Charles River, 220 to 280 g). Ethical research approval was obtained from the Animal Research Committee of the University Hospital Schleswig Holstein, UK-SH, Lübeck, D, and legitimated by the Governmental Department of Agriculture, Natural Environments and Agriculture Kiel, D, in compliance with the European Commission Recommendation to retest and review of graft-induced glutamatergic regeneration and /or cholinergic co-transmission at the neuromuscular junction for reinnervation of the skeletal internal obliquus abdominal muscle fibres. Assessments were performed to demonstrate pharmacological neuromodulation after attaching the lateral corticospinal tract at T10 to the bisected skeletal motor nerve. Medication was administered for 14 days postoperatively-a) verum Cerebrolysin ® IP=12-b) shams NaCl 0.9% IP=11, and c) 7 controls (nil). 2nd Op at day 90 (16 surviving rats) for open proof of reinnervation and its type by a) CMAP, b)Vecuronium ® application. Fast Blue ® labeling were performed. 10 days later, on the 3rd Op N=15, euthanasia and organ fixation were performed. Extensive histology-morphology examinations were performed in Cluj.Results: Eight rats showed positive CMAPs. Reinnervation and neuromodulation were demonstrated by counting and comparison of the grafted muscle fibers diameter. Four CAMP-positive-rats received Vecuronium ® : 1 CERE and 1 NaCl each demonstrated a loss of amplitude respectively two an incomplete muscle blockage due to the coexistence of glutamatergic and cholinergic neurotransmission. Confirmation of the VGluT2 in axons was observed by immunofluorescence. FB+ neurons were observed in many Rexed laminae in grafted spinal cord, but not in the brain. Conclusion:The coexistence of graft-induced cholinergic and glutamatergic neurotransmission and a great capacity of lower motor neurons and other types of spinal neurons to regenerate were observed. Because of limited animals, pharmacological neuromodulation requires further investigation.

show abstract

“…A significant decrease in the CMAP amplitude after a long exercise test has been reported in ϳ 70 -80% of the patients with periodic paralyses. 62,63 We recently investigated patients with known ion channel mutations associated with different forms of periodic paralysis. Inclusive EMG allowed us to establish consistent links between the clinical syndromes and the muscle electrical response to different provocative tests (repeated short exercise, long exercise).…”

Section: In Vivo Functional Studies Of Muscle Ion Channel Mutations Imentioning

confidence: 68%

Hypokalemic Periodic Paralysis: A Model for a Clinical and Research Approach to a Rare Disorder

et al. 2007

View full text Add to dashboard Cite

Summary:Rare diseases have attracted little attention in the past from physicians and researchers. The situation has recently changed for several reasons. First, patient associations have successfully advocated their cause to institutions and governments. They were able to argue that, taken together, rare diseases affect approximately 10% of the population in developed countries. Second, almost 80% of rare diseases are of genetic origin. Advances in genetics have enabled the identification of the causative genes. Unprecedented financial support has been dedicated to research on rare diseases, as well as to the development of referral centers aimed at improving the quality of care. This expenditure of resources is justified by the experience in cystic fibrosis, which demonstrated that improved care delivered by specialized referral centers resulted in a dramatic increase of life expectancy. Moreover, clinical referral centers offer the unique possibility of developing high quality clinical research studies, not otherwise possible because of the geographic dispersion of patients. This is the case in France where national referral centers for rare diseases were created, including one for muscle channelopathies. The aim of this center is to develop appropriate care, clinical research, and teaching on periodic paralysis and myotonia. In this review, we plan to demonstrate how research has improved our knowledge of hypokalemic periodic paralysis and the way we evaluate, advise, and treat patients. We also advocate for the establishment of international collaborations, which are mandatory for the follow-up of cohorts and conduct of definitive therapeutic trials in rare diseases.

show abstract

Exercise test in muscle channelopathies and other muscle disorders

Cited by 85 publications

References 9 publications

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

New Aspects of Graft-induced Central Plasticity and Neuroregeneration at T 10 in a Rat Model†

Hypokalemic Periodic Paralysis: A Model for a Clinical and Research Approach to a Rare Disorder

Contact Info

Product

Resources

About