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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 type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [ 1 ]
Symptoms include stiffness [1] and sometimes muscle cramping [4] after exercise (pseudo-myotonia) [5] and especially when exposed to cold. The most commonly affected muscles are in the arms, legs, and eyelids. [1] [4] Individuals with Brody myopathy also sometimes experience weakness, [4] myalgia, and rhabdomyolysis. [1]
Schwartz–Jampel syndrome (SJS, also known as chondrodystrophic myotonia) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) [1] which causes osteochondrodysplasia associated with myotonia. [2] Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. [3]
Diabetes Symptoms. Symptoms of diabetes tend to get worse the more the condition progresses without treatment. Some of the signs and symptoms include: Frequent urination. Persistent thirst ...
Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Potassium-aggravated myotonia may, in some cases, also cause paradoxical myotonia, in which myotonia becomes more severe at the time of movement instead of after movement has ceased.