Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder. The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles (myotonia) and rigidity.[1] Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), transient weakness in some forms of the disorder (from certain genetic mutations), severe masseter spasm, and cramping. The condition is sometimes referred to as fainting goat syndrome, as it is responsible for the eponymous 'fainting' seen in fainting goats when presented with a sudden stimulus. Of note, myotonia congenita has no association with malignant hyperthermia (MH).
^Gutmann, Laurie; Phillips Lh, Lawrence (2008). "Myotonia Congenita". Seminars in Neurology. 11 (3): 244–8. doi:10.1055/s-2008-1041228. PMID 1947487. S2CID 20602810.
and 22 Related for: Myotonia congenita information
Myotoniacongenita 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 myotoniacongenita, paramyotonia congenita and...
Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. This type of myotonia has been...
fainting goat is an American breed of goat. It is characterised by myotoniacongenita, a hereditary condition that may cause it to stiffen or fall over...
to myotoniacongenita, including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation). However, it is pseudo-myotonia as...
Examples of atrophying muscle diseases include muscular dystrophy, myotoniacongenita, and myotonic dystrophy. Changes in Na+ channel isoform expression...
products for treating this, or both. Myotoniacongenita is a genetic muscle disorder. The two main types of myotoniacongenita are Thomsen disease, which begins...
the breed include cerebellar abiotrophy, Chiari-like malformation, myotoniacongenita and L-2-hydroxyglutaric aciduria;: 6 hereditary cataracts have also...
found in skeletal muscle, which is used to study animal models of myotoniacongenita. Some antagonists of glycine receptors and GABAA receptors also act...
myotonic dystrophy (Steinert's disease) or nondystrophic myotonias such as myotoniacongenita (Thomsen syndrome or Becker syndrome). Common side effects...
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 myotoniacongenita. He is remembered for his histopathological work with disseminated...
machine; treatment of lower motor neuron and spinal cord pathology, myotoniacongenita and acquisita, and hysterical paralysis (18 min; distribution to Central...
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...
Global Information