Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder. The...

EMG. Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and...

fainting goat is an American breed of goat. It is characterised by myotonia congenita, a hereditary condition that may cause it to stiffen or fall over...

Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. This type of myotonia has been...

to myotonia congenita, including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation). However, it is pseudo-myotonia as...

paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia. Voltage-gated sodium channels are transmembrane glycoprotein...

inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Chloride channel protein, skeletal muscle...

Examples of atrophying muscle diseases include muscular dystrophy, myotonia congenita, and myotonic dystrophy. Changes in Na+ channel isoform expression...

products for treating this, or both. Myotonia congenita is a genetic muscle disorder. The two main types of myotonia congenita are Thomsen disease, which begins...

Muscular dystrophy, limb-girdle, type 1D myelodysplastic syndrome Myotonia congenita nonsyndromic deafness osteogenesis imperfecta[citation needed] p47-phox-deficient...

e072885. doi:10.1136/bmj-2022-072885. ISSN 1756-1833. S2CID 255570540. "Myotonia Congenita - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved...

Inflammatory myopathies Polymyositis Dermatomyositis Inclusion body myopathy Myotonia Congenita Muscular dystrophies: Duchenne muscular dystrophy Becker muscular...

syndrome, Down syndrome, Morquio syndrome, cleidocranial dysostosis or myotonia congenita. Hypermobility has been associated with myalgic encephalomyelitis...

(GSD-V, & late-onset GSD-II), Non-dystrophic myotonias and pseudomyotonias (such as Myotonia congenita and Brody disease), Limb-girdle muscular dystrophy...

sclerosis Myoclonic Encephalopathy of infants Myoclonus Myopathy Myotonia congenita Myotubular myopathy Narcolepsy Neuralgia Neuro-Behçet's disease Neurofibromatosis...

myotonic dystrophy (Steinert's disease) or nondystrophic myotonias such as myotonia congenita (Thomsen syndrome or Becker syndrome). Common side effects...

the breed include cerebellar abiotrophy, Chiari-like malformation, myotonia congenita and L-2-hydroxyglutaric aciduria.: 6  The Staffordshire Bull Terrier...

found in skeletal muscle, which is used to study animal models of myotonia congenita. Some antagonists of glycine receptors and GABAA receptors also act...

and axonopathy in addition to myopathies such as muscular dystrophy, myotonia, and myasthenia gravis. Electromyoneurography was the main technique used...

sclerosis, amaurotic idiocy, paralysis agitans, Huntington’s chorea and myotonia congenita. He is remembered for his histopathological work with disseminated...

Health Exercise Nutrition Pachydermoperiostosis Pachygyria Pachyonychia congenita Jackson–Lawler type Pacman dysplasia Paes–Whelan–Modi syndrome Paget disease...

(GSD-V, & late-onset GSD-II), Non-dystrophic myotonias and pseudomyotonias (such as Myotonia congenita and Brody disease), Limb-girdle muscular dystrophy...

spasms (myotonia) in the affected muscles. This can be caused by the same things that trigger the paralysis, dependent on the type of myotonia. Some people...

chondrodystrophic myotonia) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) which causes osteochondrodysplasia associated with myotonia. Most...

609200; TTID Myotonia congenita, atypical, acetazolamide-responsive; 608390; SCN4A Myotonia congenita, dominant; 160800; CLCN1 Myotonia congenita, recessive;...

chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita". Neurology. 47 (4): 993–8. doi:10.1212/wnl.47.4.993. PMID 8857733...

machine; treatment of lower motor neuron and spinal cord pathology, myotonia congenita and acquisita, and hysterical paralysis (18 min; distribution to Central...

progressiva Myositis ossificans Myositis, inclusion body Myositis Myotonia atrophica Myotonia mental retardation skeletal anomalies Myotubular myopathy Myxedema...

MeSH C10.574.500.540 – menkes kinky hair syndrome MeSH C10.574.500.545 – myotonia congenita MeSH C10.574.500.547 – myotonic dystrophy MeSH C10.574.500.549 – neurofibromatosis...

are evident) and the symptoms will be more severe – including electrical myotonia. As the number progresses upwards past 400, the symptoms show themselves...