Unverricht disease

Unverricht disease
Unverricht-Lundborg disease a slowly progressive autosomal recessive disorder, a form of progressive myoclonic epilepsy first seen in Finland. Onset is usually around the age of 10 and there are degenerative changes in the brain without presence of Lafora bodies. Myoclonic seizures are severe and continuous and tend to be triggered by movement, stress, and sensory stimuli, but mental deterioration is milder and survival is usually longer than in Lafora disease. It is associated with mutation in the gene encoding cystatin B, a cysteine protease inhibitor that blocks the actions of cathepsins; the mutation causes expansion of a minisatellite repeat sequence in the putative promoter region of the gene. Called also Baltic myoclonic epilepsy and progressive myoclonic epilepsy type 1 (EPM1).

Medical dictionary. 2011.

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  • Unverricht disease — Un·ver·richt disease (oonґfer ikt) [Heinrich Unverricht, German physician, 1853–1912] myoclonic epilepsy …   Medical dictionary

  • Unverricht-Lundborg disease — Unverricht Lundborg disease. См. болезнь Унферрихта Лундборга. (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.

  • Unverricht-Lundborg disease — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 31320 ICD10 = ICD10|G|40|3|g|40 ICD9 = ICD9|333.2 ICDO = OMIM = 254800 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D020194 Unverricht Lundborg disease (ULD) is the most common… …   Wikipedia

  • Unverricht-Lundborg disease — Un·ver·richt Lund·borg disease (oonґfer ikt loondґborg) [H. Unverricht; Herman Bernhard Lundborg, Swedish physician, 1868–1943] see under disease …   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

  • Unverricht — Heinrich, German physician, 1853–1912. See U. disease …   Medical dictionary

  • Heinrich Unverricht — (September 18, 1853 April 22, 1912) was a German internist who was a native of Breslau. In 1877 he obtained his doctorate from the University of Breslau, where he was a student of Michael Anton Biermer (1827 1892). Later he was a professor at… …   Wikipedia

  • Maladie D'Unverricht-Lundborg — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Maladie d' Unverricht-Lundborg — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Maladie d'unverricht-lundborg — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

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