WebJan 26, 2024 · Mutations of the gene encoding CLC-1 result in a genetic disease, myotonia congenita, which can be inherited as an autosmal dominant (Thomsen type) or an autosomal recessive (Becker type) pattern. WebNeuromyotonia (NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of …

Myotonia Congenita - Conditions - Neurological - Physio.co.uk

http://myotoniacongenita.org/ WebMyotonia congenita, also known as Thomsen disease, is an autosomal dominant disorder, but it is not associated with any dystrophic features. The onset is at birth, usually with … illinois housing development authority ilga

Myotonia Congenita - Washington University in St. Louis

WebFeb 25, 2024 · Myotonia congenita is inherited in either an autosomal recessive (Becker disease) or an autosomal dominant (Thomsen disease) manner; the same pathogenic … WebMyotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation.. Myotonia is the defining symptom of many channelopathies such as myotonia congenita, paramyotonia congenita and myotonic … WebSep 17, 2007 · In Thomsen type myotonia congenita, symptoms may become evident from infancy to approximately two to three years of age and are typically nonprogressive. … illinois housing authority covid relief