Thomsen disease

Thomsen disease

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 8736
ICD10 = ICD10|G|71|1|g|70
ICD9 = ICD9|359.2
ICDO =
OMIM = 160800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D009224

Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction. The affected muscle functions normally after a few repetitions.

Causes

It is associated with mutations in the chloride channel gene Gene|CLCN1.

Presentation

The disorder only affects voluntary muscles, so involuntary muscles such as the heart or muscles involved in the digestion process are not affected.

Treatment and prognosis

There is no known cure but some drugs may relieve symptoms. These include: Dilantin, Procainamide, Phenytoin and Mexiletine.

The disease is not fatal.

History

Julius Thomsen, a Danish physician, was the first to describe the disease, citing symptoms of his own family members.

External links

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Look at other dictionaries:

  • Thomsen disease — Thomsen disease. 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.

  • Thomsen disease — Thom·sen disease (tomґsen) [Asmus Julius Thomas Thomsen, Danish physician, 1815–1896] the autosomal dominant form of myotonia congenita (q.v.) …   Medical dictionary

  • Thomsen disease — the autosomal dominant form of myotonia congenita (q.v.) …   Medical dictionary

  • Thomsen's disease — Thom sen s dis*ease [From Thomsen, a physician of Sleswick.] (Med.) An affection apparently congenital, consisting in tonic contraction and stiffness of the voluntary muscles occurring after a period of muscular inaction. [1913 Webster] …   The Collaborative International Dictionary of English

  • Thomsen's disease — Thom·sen s disease tȯm sənz n MYOTONIA CONGENITA Thomsen Asmus Julius Thomas (1815 1896) Danish physician. In 1876 Thomsen gave the first full description of a congenital disease marked by tonic spasm of some of the muscles. He himself suffered… …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Thomsen — Asmus J., Danish physician, 1815–1896. See T. disease …   Medical dictionary

  • Neuromuscular disease — Classification and external resources MeSH D009468 Neuromuscular disease is a very broad term that encompasses many diseases and ailments that either directly, via intrinsic muscle pathology, or indirectly, via nerve pathology, impair the …   Wikipedia

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  • muscle disease — ▪ pathology Introduction       any of the diseases and disorders that affect the human muscle system (muscle system, human). Diseases and disorders that result from direct abnormalities of the muscles are called primary muscle diseases; those… …   Universalium

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