The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, Volume 11, Issue 1, January 2021., 2021 Prevalence study of hereditary neuromuscular disorders (HNMD) in Northern Norway based on medical journals, a national Norwegian registry, and medical genetics data. Results showed a high prevalence of HNMD (111.9/100,000) in Northern Norway. The prevalence of Myotonia Congenita and FKRP‐related Limb‐Girdle Muscular Dystrophy R9 might be the highest ...
Kai Ivar Müller +4 more
wiley +1 more source
Paralysis Periodica Paramyotonica Caused by SCN4A Arg1448Cys Mutation
Journal of the Formosan Medical Association, 2006 Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis.
Wei-Chih Hsu +5 more
doaj +1 more source
Familial hyperkalemic periodic paralysis caused by a mutation in the sodium channel gene [PDF]
, 2011 Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia.
Ji-Yeon Han, June-Bum Kim
core +1 more source
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 +6 more
doaj +1 more source
Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH [PDF]
, 1987 To study the mechanism of periodic paralysis, we investigated the properties of intact muscle fibers biopsied from a patient who had adynamia episodica hereditaria with electromyographic signs of myotonia.
Aickin +37 more
core +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]
, 2011 Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode +22 more
core +1 more source
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis [PDF]
, 2014 Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on
Acevedo-Arozena, Abraham +28 more
core +2 more sources
Predominantly myalgic phenotype caused by the c.3466G > A p.A1156T mutation in SCN4A gene [PDF]
, 2017 Objective: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. Methods: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study,
Hanna, Michael G. +5 more
core +2 more sources
Lupus anticoagulant, paramyotonia congenita and pregnancy [PDF]
Canadian Journal of Anaesthesia, 1992 A case report is presented of the anaesthetic management of a parturient with paramyotonia congenita and lupus anticoagulant antibodies. She had been treated with prophylactic, subcutaneous heparin and aspirin throughout her pregnancy. Epidural analgesia was provided for labour and delivery.
P R, Howell, M J, Douglas
openaire +2 more sources