Results 41 to 50 of about 2,450 (192)
Four cases of myotonia congenita in a Turkish family
, 2010 Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless ...
Aygul, Recep +5 more
core +1 more source
Frontiers in Neurology, 2020 Objective: The aim of our study was to evaluate the long-term efficacy and safety of mexiletine in 112 patients affected by genetically confirmed non-dystrophic myotonias. The study was performed at the Neurophysiologic Division of Fondazione Policlinico
Anna Modoni +6 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita
, 2010 Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner.
Sangiuolo, F +5 more
core +1 more source
Frontiers in Physiology, 2020 Reduced Cl− conductance causes inhibited muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. This represents the pathomechanism of myotonia congenita.
Kerstin Hoppe +14 more
doaj +1 more source
A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping
Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 1078-1083, May 2026.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
Myotonia congenita — a successful response to carbamazepine
, 2006 Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course.
Hyderi, Abbas +4 more
core +1 more source
An analysis of myotonia in paramyotonia congenita [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1974 In two subjects with paramyotonia congenita myotonic delay in muscle relaxation, recorded electromyographically and with a displacement transducer, was found to increase with repeated forceful contractions. Myotonia was elicited readily in warm temperatures, was initially aggravated by cooling, but was invariably lost as muscle fatigue developed.
D, Burke, N F, Skuse, A K, Lethlean
openaire +2 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Muscle hypertrophy in myotonia congenita [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2003 A 28 year old male presented to our neurology service with stiffness of a few years’ duration in all muscles. The stiffness was maximum at the onset of exercise and his muscles loosened up after some time. He had no difficulty in releasing his grip after holding an object. He had very well developed muscles in spite …
B, Varkey, L, Varkey
openaire +2 more sources