Search results
Results from the WOW.Com Content Network
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]
It is characterised by myotonia congenita, a hereditary condition that may cause it to stiffen or fall over when excited or startled. [ 1 ] : 396 [ 2 ] [ 3 ] It may also be known as the Tennessee fainting goat, falling goat, stiff-legged goat or nervous goat, or as the Tennessee wooden-leg goat.
Because the heartbeat is dependent on the proper movement of ions across the surface membrane, cardiac channelopathies make up a key group of heart diseases. [3] Long QT syndrome , the most common form of cardiac channelopathy, is characterized by prolonged ventricular repolarization, predisposing to a high risk of ventricular tachyarrhythmias ...
Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). [5] Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene. [6] Mutations in this protein cause congenital myotonia.
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 ...
Up to 48 per 100,000 (1:2100) individuals tested positive for the mutation of DM1 in New York, although not all of these individuals would have become symptomatic. [33] Again in New York, premutations for DM1 were found in 191 per 100,000 (1:525). [33] DM2 prevalence is unknown, but genetic studies estimate it to be as high as 1:1830. [5]
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]
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.