Paramyotonia Congenita without Cold Paralysis: A Case Report.
نویسندگان
چکیده
منابع مشابه
Hypothermic cardiopulmonary bypass in paramyotonia congenita: a case report.
Paramyotonia congenita is a non-progressive disease characterised by myotonia (failure of muscle relaxation) induced by the exposure of the affected muscles to cold. Episodes of flaccid paralysis occur and may be related to hyperkalaemic periodic paralysis. Proximal myopathy or muscular hypertrophy may occur. The condition is inherited as an autosomal dominant.' Severe paralysis may occur with ...
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Paramyotonia congenita was first described by Eulenberg (1886). It is a rare, hereditary disorder of muscle in which severe loss of power is induced by degrees of cooling which are insufficient to affect normal muscle. Myotonia also appears on cooling. However, the paralysis produced by cooling distinguishes paramyotonia from Thomsen's disease. The weakness and myotonia can easily be produced u...
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Aplasia cutis congenita is the congenital absence of skin mostcommonly affecting the scalp. No definite etiology is available butmultiple causes such as intrauterine infection, fetal exposure tococaine, heroin, alcohol or antithyroid drugs, vascular disruption,genetic causes, syndromes and teratogens have been suggested.We present an infant with extensive aplasia cutis of the trunk andthigh. He...
متن کاملHyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene
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...
متن کاملMembrane defects in paramyotonia congenita with and without myotonia in a warm environment.
Three patients with paramyotonia congenita and 3 control persons were biopsied for an in vitro investigation of the sarcolemmal membrane parameters and of the contractile properties of paramyotonic muscle. At 37 degrees C, paramyotonic muscle fibers had normal resting potentials, but on cooling to 27 degrees C they depolarized. Depolarization to -60 mV caused spontaneous activity, and further d...
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ژورنال
عنوان ژورنال: The Keio Journal of Medicine
سال: 1994
ISSN: 1880-1293,0022-9717
DOI: 10.2302/kjm.43.94