myotonia congenita

myotonia congenita
myotonia con·gen·i·ta -kän-'jen-ə-tə n an inherited condition that is characterized by delay in the ability to relax muscles after forceful contractions but not by wasting of muscle called also Thomsen's disease

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tonic spasm and rigidity of certain muscles when an attempt is made to move them after a period of rest or when mechanically stimulated; the stiffness disappears as the muscles are used. There are autosomal dominant and autosomal recessive forms; both are due to mutation in the CLCN1 gene (locus: 7q35), which encodes a skeletal muscle chloride channel. The autosomal dominant form is called also Thomsen disease; the autosomal recessive form, which is more severe, appears later in childhood, and is often also characterized by muscle weakness, is called also Becker disease.

Medical dictionary. 2011.

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  • Myotonia congenita — Classification and external resources ICD 10 G71.1 ICD 9 359.2 …   Wikipedia

  • myotonia congenita — myotonia congenita. См. болезнь Томсена. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Myotonia congenita — Unter Myotonie werden verschiedene Muskelerkankungen zusammengefasst, die sich durch eine krankhaft verlängerte, tonische Muskelanspannung auszeichnen. Die elektrische Aktivität des Muskel gemessen im Elektromyogramm (EMG) zeigt ein typisches… …   Deutsch Wikipedia

  • Myotonia congenita Becker — Klassifikation nach ICD 10 G71.1 Myotone Syndrome Myotonia congenita, rezessiv (Becker) …   Deutsch Wikipedia

  • Myotonia congenita Thomsen — Klassifikation nach ICD 10 G71.1 Myotone Syndrome Myotonia congenita, dominant (Thomsen Syndrom) …   Deutsch Wikipedia

  • myotonia congenita — noun a mild, rare, congenital form of myotonia characterized by muscle stiffness • Syn: ↑Thomsen s disease • Hypernyms: ↑myotonia …   Useful english dictionary

  • Myotonia — Classification and external resources ICD 10 G71.1 ICD 9 359.2 …   Wikipedia

  • congenita — see AMYOTONIA CONGENITA, ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOTONIA CONGENITA, OSTEOGENESIS IMPERFECTA CONGENITA …   Medical dictionary

  • myotonia — myotonic /muy euh ton ik/, adj. /muy euh toh nee euh/, n. Pathol. tonic muscle spasm or muscular rigidity. [1895 1900; MYO + TONIA] * * * Disorder causing difficulty relaxing contracted voluntary muscles. All or only a few may be affected.… …   Universalium

  • myotonia — Delayed relaxation of a muscle after a strong contraction, or prolonged contraction after mechanical stimulation (as by percussion) or brief electrical stimulation; due to abnormality of the muscle membrane, specifically the ion channels. [ …   Medical dictionary

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