Results 31 to 40 of about 11,146 (222)
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]
, 2017 Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio +6 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
Neurologic Clinics, 1988 The clinical and electrophysiologic features of myotonia can be seen in a number of human diseases as well as in several well-studied animal models. In some cases the underlying pathophysiologic mechanism has been defined, but different and as yet undetermined membrane abnormalities are present in others.
openaire +2 more sources
Biomedicines, 2021 Cannabidiol (CBD), one of the cannabinoids from the cannabis plant, can relieve the myotonia resulting from sodium channelopathy, which manifests as repetitive discharges of muscle membrane.
Chiung-Wei Huang +3 more
doaj +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
Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia
Diagnostics, 2021 Myotonia, i.e., delayed muscle relaxation in certain hereditary muscle disorders, can be assessed quantitatively using different techniques ranging from force measurements to electrodiagnostics.
Cornelius Kronlage +6 more
doaj +1 more source
Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective? [PDF]
PLoS ONE, 2013 Mutations in the cytoplasmic tail (CT) of voltage gated sodium channels cause a spectrum of inherited diseases of cellular excitability, yet to date only one mutation in the CT of the human skeletal muscle voltage gated sodium channel (hNaV1.4F1705I) has
Subrata Biswas +3 more
doaj +1 more source
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
A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari +3 more
wiley +1 more source
Frontiers in Neurology, 2020 Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi +31 more
doaj +1 more source