Results 11 to 20 of about 39,732 (154)

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

Turk J Anaesthesiol Reanim, 2019
Anaesthetic management in paramyotonia congenita (PC) or 'paradoxical myotonia' poses perioperative challenges to the anaesthesiologists both in obstetric and non-obstetric surgical patients.
Najid NM, Razak TA, Günaydın DB.
europepmc   +3 more sources

Open-label trial of ranolazine for the treatment of paramyotonia congenita. [PDF]

Muscle Nerve, 2019
Paramyotonia congenita (PMC) is a nondystrophic myotonic disorder that is believed to be caused by a defect in Nav1.4 sodium channel inactivation.
Lorusso S, Kline D, Bartlett A, Freimer M, Agriesti J, Hawash AA, Rich MM, Kissel JT, David Arnold W.   +8 more
europepmc   +3 more sources

A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A [PDF]

Annals of Child Neurology, 2022
Paramyotonia congenita (PC) is a type of Na channelopathy caused by mutations in the Na voltage-gated channel alpha subunit 4 (SCN4A) gene on chromosome 17q23, which encodes voltage-gated Na channels (Nav1.4) in skeletal muscles and is inherited in an ...
Yoo Jung Lee, Yoon Hee Jo, Young Mi Kim
doaj   +2 more sources

Physical Therapy Interventions and Response to this Treatment in a 13-year-old Female with Paramyotonia Congenita [PDF]

International Journal of Physiotherapy, 2023
Background: Paramyotonia Congenita (PMC) is a rare genetic disorder that affects the sodium ion pump at the level of muscles, retarding muscular relaxation after activation. Symptoms may include isolated or global muscle stiffness, with or without pain.
Morgan Ricks, Warren Lake, Trent Jackman
doaj   +2 more sources

Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC). [PDF]

J Neuromuscul Dis
Four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC) developed devastating painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after 20 weeks of gestation.
Kinoshita M, Yamamoto M, Machida R, Misawa M, Yabe S, Yoshida N, Kikuchi A, Fukaura H, Kaida K, Ohno K.   +9 more
europepmc   +2 more sources

Anaesthesia for Paramyotonia Congenita: A Narrative Review. [PDF]

Cureus
Paramyotonia congenita (PMC) is a rare, non-progressive neuromuscular disorder characterised by muscle stiffness and delayed relaxation following voluntary contraction or mechanical stimulation.
Chee M, Thangavelautham S, Chen JH, Kothandan H.   +3 more
europepmc   +2 more sources

Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature. [PDF]

World J Clin Cases
BACKGROUND Paramyotonia congenita (PMC) stands as a rare sodium channelopaty of skeletal muscle, initially identified by Eulenburg. The identification of PMC often relies on electromyography (EMG), a diagnostic technique.
Yi H, Liu CX, Ye SX, Liu YL.
europepmc   +2 more sources

Muscle channelopathies: A review. [PDF]

Ann Child Neurol Soc, 2023
Abstract Background Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the turn of the 20th century, with a steady evolution in terms of understanding the ...
McGowan BR, Schwaede AN, De Simone L, Rao VK.   +3 more
europepmc   +2 more sources

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Biomedical Papers, 2019
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone.
Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca   +6 more
doaj   +2 more sources

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia. [PDF]

Eur J Neurol
ABSTRACT Background This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy examinations.
Periviita V, Männikkö R, Jokela M, Sud R, Hanna MG, Udd B, Palmio J.   +6 more
europepmc   +2 more sources