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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 ...
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]
NMT is a diverse disorder. As a result of muscular hyperactivity, patients may present with muscle cramps, stiffness, myotonia-like symptoms (slow relaxation), associated walking difficulties, hyperhidrosis (excessive sweating), myokymia (quivering of a muscle), fasciculations (muscle twitching), fatigue, exercise intolerance, myoclonic jerks and other related symptoms.
Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. The mutation involves satellite DNA , which is tandemly repeated sequences of DNA that do not code for a protein.
A fainting goat kid in the midst of a myotonic "fainting" spell. The myotonic goat or Tennessee 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 when excited or startled.
When it comes to muscular diseases, most of us have heard of especially common ones like muscular dystrophy and Lou Gehrig's disease.But one of the rarest muscular disorders is also one of the ...
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 .
Myotonin-protein kinase is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases.Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. [7]