Successuful treatment of paramyotonia congenita (Eulenburg): muscle stiffness and weakness prevented by tocainide.
نویسندگان
چکیده
Recent studies have shown that the sodium conductance of the sarcolemma is disturbed in paramyotonia. Tocainide is a new antiarrhythmic agent which seems to reduce effectively sodium conductance. Eight patients with paramyotonia were treated with tocainide, whereby the paramyotonic stiffness and weakness brought about by cooling could be prevented.
منابع مشابه
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
BACKGROUND Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold-induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potass...
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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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Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, ...
متن کاملA Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase was mildly elevated and short exercise test with cooling revealed a drastic reduction of compound ...
متن کاملDifferential diagnosis of myotonic disorders.
The presence of myotonia and paramyotonia on clinical examination and of myotonic discharges during electrodiagnostic (EDX) studies are important for the diagnosis of certain neuromuscular conditions. The increased muscle activity of myotonia produces muscle stiffness that improves with repeated activity. Paramyotonia produces a similar symptom, but the stiffness paradoxically increases with ac...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 43 3 شماره
صفحات -
تاریخ انتشار 1980