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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]
Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy . [ 5 ] [ 3 ] The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein , essential for maintaining the muscle fiber's ...
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 myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine. [ 30 ] Low-intensity, assisted exercises, dynamic exercise training, or assisted bicycle training of the arms and legs during a 24-week trial significantly delayed the functional loss ...
Myotonia tends to be more prominent in DM1 compared to DM2. [5] Other DM1 manifestations include problems with executive function (e.g., organization, concentration, word-finding) and hypersomnia. [5] Abnormalities in the electrical activity of the heart are common in DM1, manifesting as arrhythmias or conduction blocks. [2]
Central core disease (CCD), also known as central core myopathy, is an autosomal dominant inherited [1] muscle disorder present from birth that negatively affects the skeletal muscles.
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.
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.