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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.
Like insulin resistance, prediabetes often doesn’t cause any noticeable symptoms. But some people develop prediabetes symptoms such as: ... including myotonic dystrophy, ataxia-telangiectasia ...
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]
Hot flashes can be associated with all of the above and can bring additional unwanted symptoms of their own. "Some 8 in 10 women will experience hot flashes during menopause or the menopause ...
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]