نتایج جستجو برای: myotonia congenita
تعداد نتایج: 4830 فیلتر نتایج به سال:
A 25-year-old man presented with a 10-year history of difficulty in relaxing his muscles. He was bodybuilding champion in his city without doing any exercise. Neurologic examination revealed well-formed skeletal muscles (first part of the video: http://ijnl.tums.ac.ir/public/891-725-1-Part1.mov) and myotonia most prominent in the eyes (a lag in opening the eyes after forceful closure) and hands...
Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-o...
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability. For both diseases, alterations in muscle chloride or sodium currents or both have been observed. A complementary DNA for a human skeletal muscle chloride channel (...
We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in t...
We report an undiagnosed case of myotonia congenita in a 24-year-old previously healthy primigravida, who developed life threatening masseter spasm following a standard dose of intravenous suxamethonium for induction of anaesthesia. Neither the patient nor the anaesthetist was aware of the diagnosis before this potentially lethal complication occurred.
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