Results 71 to 80 of about 3,642 (184)

Periodic hypokalemic paralysis disclosing thyrotoxicosis [PDF]

open access: yes, 1998
BACKGROUND: Hypokaliemic periodic paralysis is an uncommon complication of hyperthyroidism occurring sporadically almost exclusively in young Asian men. The clinical presentation is the same as in familial hypokaliemic periodic paralysis.
F. Dubas   +5 more
core  

Three cases of thyrotoxic periodic paralysis due to painless thyroiditis

open access: yesIndian Journal of Endocrinology and Metabolism, 2013
We present three cases of thyrotoxic periodic paralysis (TPP) due to painless thyroiditis presenting as acute quadriparesis. All responded to potassium supplementation and propranolol.
Debmalya Sanyal   +2 more
doaj   +1 more source

Stability and sensitivity of water T2 obtained with IDEAL-CPMG in healthy and fat-infiltrated skeletal muscle [PDF]

open access: yes, 2016
Quantifying muscle water T2 (T2 -water) independently of intramuscular fat content is essential in establishing T2 -water as an outcome measure for imminent new therapy trials in neuromuscular diseases.
Evans, MR   +9 more
core   +1 more source

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia

open access: yesEuropean Journal of Neurology, Volume 32, Issue 5, May 2025.
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.
Vesa Periviita   +6 more
wiley   +1 more source

Clinical and biochemical spectrum of hypokalemic paralysis in North: East India

open access: yesAnnals of Indian Academy of Neurology, 2013
Background: Acute hypokalemic paralysis, characterized by acute flaccid paralysis is primarily a calcium channelopathy, but secondary causes like renal tubular acidosis (RTA), thyrotoxic periodic paralysis (TPP), primary hyperaldosteronism, Gitelman′s ...
Ashok K Kayal   +3 more
doaj   +1 more source

Predominantly myalgic phenotype caused by the c.3466G > A p.A1156T mutation in SCN4A gene [PDF]

open access: yes, 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

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Report the prevalence of multiple genetic diseases in the Undiagnosed Diseases Network (UDN) cohort in the post‐exome‐sequencing era. UDN subjects underwent genome sequencing before inclusion in the cohort. Records of all UDN subjects until January 2024 were analyzed.
Alex F. Gimeno   +4 more
wiley   +1 more source

Comparative study of thyrotoxic periodic paralysis from idiopathic hypokalemic periodic paralysis: An experience from India

open access: yesAnnals of Indian Academy of Neurology, 2012
Objective: There is paucity of reports on thyrotoxic periodic paralysis (TPP) from India. We report the patients with TPP and compare them with idiopathic hypokalemic periodic paralysis (IHPP).
J Kalita   +4 more
doaj   +1 more source

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [PDF]

open access: yes, 2001
The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4.
Abbott, GW   +5 more
core  

Severe Life‐Threatening Hypokalemia Primarily Presented With Isolated Paralysis: Case Series From Ethiopia

open access: yesClinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Severe hypokalemia can primarily present as a weakness of the limbs, without any other clinical manifestation. A life‐threatening level of decreased serum potassium level can be unusually present with isolated weakness of the limbs and might be misdiagnosed, or the diagnosis may be delayed.
Getasew Kassaw Alemu   +3 more
wiley   +1 more source

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