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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 and rigidity. [1]
12723 Ensembl ENSG00000188037 ENSMUSG00000029862 UniProt P35523 Q64347 RefSeq (mRNA) NM_000083 NM_013491 NM_001363712 RefSeq (protein) NP_000074 NP_038519 NP_001350641 Location (UCSC) Chr 7: 143.32 – 143.35 Mb Chr 6: 42.26 – 42.29 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb ...
Deaconess Hospital was the name of several hospitals in St. Louis, Missouri. The Deaconess tradition began in 19th-century Europe when Theodor Fliedner of Kaiserswerth, Germany, established the first Deaconess Home and Hospital in 1836. The word deaconess means “one who is devoted to service”, being the feminine gender of the word deacon. [1]
Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. [3] [4] Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal ...
Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia.
The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita. Channelopathies affecting synaptic function are a type of synaptopathy .
It is characterised by myotonia congenita, a hereditary condition that may cause it to stiffen or fall over when excited or startled. [ 1 ] : 396 [ 2 ] [ 3 ] It may also be known as the Tennessee fainting goat, falling goat, stiff-legged goat or nervous goat, or as the Tennessee wooden-leg goat.
Isolated case reports of myotonia had been published previously, including reports by Frederick Eustace Batten and Hans Curschmann, and type 1 myotonic dystrophy is therefore sometimes known as Curschmann-Batten-Steinert syndrome. [35] The underlying cause of type 1 myotonic dystrophy was determined in 1992. [2]