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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 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 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.
Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. [1]
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.
In clinical use, neuromuscular block is used adjunctively to anesthesia to produce paralysis, firstly to paralyze the vocal cords, and permit endotracheal intubation, [2] and secondly to optimize the surgical field by inhibiting spontaneous ventilation, and causing relaxation of skeletal muscles.
Brody disease (also known as Brody myopathy) includes symptoms similar to myotonia congenita, including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation). However, it is pseudo-myotonia as those with Brody disease have normal EMG. [11]
Hypermobility may be symptomatic of a serious medical condition, such as Stickler syndrome, Ehlers–Danlos syndrome, [14] Marfan syndrome, [14] Loeys–Dietz syndrome, rheumatoid arthritis, osteogenesis imperfecta, [14] lupus, polio, Fragile X syndrome, Down syndrome, [14] Morquio syndrome, cleidocranial dysostosis or myotonia congenita.