Results 41 to 50 of about 1,125 (172)

Paradoxical pseudomyotonia in English Springer and Cocker Spaniels

Journal of Veterinary Internal Medicine, 2020
Background Paramyotonia congenita and Brody disease are well‐described conditions in humans, characterized by exercise‐induced myotonic‐like muscle stiffness. A syndrome similar to Brody disease has been reported in cattle.
Kimberley Stee, Mario Van Poucke, Luc Peelman, Mark Lowrie   +3 more
doaj   +1 more source

Temperature Sensitive Defects in Paramyotonia Congenita Mutants R1448C and T1313M

, 2004
The biophysical origins of paramyotonia congenita and its exacerbation in cold temperatures were examined. Human skeletal muscle voltage-gated sodium channels were expressed in Xenopus oocytes and macroscopic currents were recorded from cell-attached ...
Abbruzzese, Jennifer L., Rubin, Peter C., Dice, Margaret S., Groome, James R., Wheeler, James Thomas, Fujimoto, Esther   +5 more
core   +1 more source

Buprenorphine may be effective for treatment of paramyotonia congenita

, 2021
Introduction/Aims: Paramyotonia congenita (PMC) is a skeletal muscle sodium channelopathy characterized by paradoxical myotonia, cold sensitivity, and exercise/cold-induced paralysis.
Altamura Concetta, Alfonsi E., Ravaglia S., Desaphy JF., Maggi L., Bernasconi P., Zito Antonio, Gallotti P., Arceri S.   +8 more
core   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Skeletal muscle in paramyotonia congenita:biochemistry, histochemistry and morphology

, 1985
In 12 patients with paramyotonia congenita, percutaneous needle biopsies from the brachial biceps muscle were performed. Muscle fibre area, distribution of muscle fibre types I, II-A and II-B and capillarization were not different from healthy controls ...
Johnsen, T, Paulson, O B, Saltin, B, Friis, M L   +3 more
core   +1 more source

Analgesia and Anaesthesia Management of Labour and Caesarean Delivery for a Parturient with Paramyotonia Congenita.

, 2019
Anaesthetic management in paramyotonia congenita (PC) or 'paradoxical myotonia' poses perioperative challenges to the anaesthesiologists both in obstetric and non-obstetric surgical patients.
Thohiroh Abdul Razak, Razak, Thohiroh Abdul, Nazuha Mohd Najid, Dudu Berrin Gunaydin, Najid, Nazuha Mohd, Günaydın, Dudu Berrin   +5 more
core   +1 more source

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

European Journal of Histochemistry, 2009
Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis ...
G Meola, V Sansone, G Rotondo, E Mancinelli   +3 more
doaj   +1 more source

A case of paramyotonia congenita in pregnancy

Obstetric Medicine, 2019
Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle. Symptom onset is typically during early childhood and is characterised by myotonia followed by flaccid paralysis or weakness, usually exacerbated by repeated muscle ...
EK Brooks, D Schweitzer, HL Robinson
openaire   +5 more sources

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.

, 1991
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level.
Lathrop, GM, Beckmann, JS, Ting-Passador, SS, Kallen, R. G., Hudson, A. J., Kallen, RG, Brown, WF, Campbell, R. D., George, AL, Hahn, AF, Ebers, G. C., Lathrop, G. M., Ebers, GC, Ting-Passador, S. S., Hahn, A. F., George, A. L., Brown, W. F., Ebers, George, Campbell, RD, Barchi, R. L., Beckmann, J. S., Barchi, RL   +21 more
core   +1 more source

Pathophysiological role of omega pore current in channelopathies

Frontiers in Pharmacology, 2012
In voltage-gated cation channels, a recurrent pattern for mutations is the neutralization of positively charged residues in the voltage-sensing S4 transmembrane segments.
Karin eJurkat-Rott, James Richard Groome, Frank eLehmann-Horn   +2 more
doaj   +1 more source