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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]
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 ...
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. [7] It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. [8]
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]
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.
Detroit PBS announced Thursday that the Fred A. and Barbara M. Erb Family Foundation is donating $7.5 million toward the $30 million cost of the new Detroit headquarters project, which will ...
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. [2] Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing ( myotonia ) that prevent muscles from relaxing normally.
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.