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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 ( myotonia ) and rigidity . [ 1 ]
Myotonia congenita is caused by an inherited disorder of a chloride channel in the muscles of the skeleton (skeletal muscle chloride channel 1, CLCN1). [14] Congenital myotonia can be inherited as an autosomal dominant trait (with incomplete penetrance) or a recessive trait, resulting in the varying severity of the condition.
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 ...
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 .
However, due to the weak evidence and potential side effects such as cardiac arrhythmias, these treatments are rarely used. A recent study in December 2015 showed that a common FDA-approved antibiotic, erythromycin, reduced myotonia in mice. [37] Human studies are planned for erythromycin.
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.
Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. [2] This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita , is alleviated by exercise.
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.