A genetic systemic disease: clinical description of type 1 myotonic dystrophy in adults

La Revue de médecine interne
Pierre Kaminsky, Lelia Pruna

Abstract

Type 1 myotonic dystrophy is an autosomal dominant inherited disorder related to the expansion of a trinucleotide (CTG) repeat in the exon 15 in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Mutant transcripts containing an expanded CUG repeat are retained in nuclear foci and cause numerous dysfunctions by interfering with biogenesis of other mRNAs. Prominent clinical features are progressive muscular weakness and myotonia, which affect skeletal muscles but also white muscles leading to digestive, urinary and obstetrical disorders. Functional prognosis correlates with motor handicap and vital prognosis is linked to cardiac rhythm disturbances and conduction defects due to progressive subendocardial fibrosis, and to complex respiratory dysfunctions, which associate restrictive lung disease, involvement of the central inspiratory pathway, and sleep apnea. Other clinical features are lens opacity, glucose intolerance, metabolic syndrome, several endocrine disorders (gonadal deficiency, hyperparathydoidism), or immunoglobulin deficiency due to immunoglobulin G hypercatabolism. Life expectancy is reduced in myotonic dystrophy, and death is mainly caused by respiratory complications, but also by car...Continue Reading

References

Sep 1, 1976·European Journal of Intensive Care Medicine·M de BackerR J Kahn
Sep 1, 1988·The Journal of Clinical Endocrinology and Metabolism·H YoshidaM Kinoshita
Mar 1, 1988·Journal of the American College of Cardiology·H H NguyenW D Edwards
Dec 20, 1994·Journal of the Neurological Sciences·K AbeT Yanagihara
Jan 1, 1995·Journal of the American College of Cardiology·P MelaciniM Miorelli
Feb 1, 1996·Italian Journal of Neurological Sciences·I MastrogiacomoC Angelini
Dec 1, 1996·Brain : a Journal of Neurology·U A ZifkoC F Bolton
Jul 1, 1997·American Journal of Respiratory and Critical Care Medicine·P BéginA Grassino
Aug 6, 1999·The British Journal of Ophthalmology·T AbeM Tamai
Mar 29, 2001·Neurology·M S DamianH Reichmann
Jun 12, 2003·Neuromuscular Disorders : NMD·K TalbotD Hilton-Jones
Feb 5, 2004·American Heart Journal·Deepak BhaktaWilliam J Groh
Apr 22, 2004·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Sabine Rudnik-Schöneborn, Klaus Zerres
Aug 10, 2005·Archives of Neurology·Jeffrey J Tramonte, Ted M Burns
Oct 19, 2006·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Jonghan KimClark L Anderson
Jun 19, 2007·Cardiology in Review·Ali A SovariFarhad Farokhi
Oct 24, 2007·Biochimica Et Biophysica Acta·Céline Guiraud-DoganGeneviève Gourdon
Mar 18, 2008·International Journal of Cardiology·Josef Finsterer, Claudia Stöllberger
Jun 21, 2008·The New England Journal of Medicine·William J GrohRobert M Pascuzzi
Oct 7, 2008·Journal of the Neurological Sciences·Tsuyoshi MatsumuraSusumu Shinno
Feb 19, 2009·Human Molecular Genetics·Robert J OsborneCharles A Thornton
Jun 2, 2009·Sleep & Breathing = Schlaf & Atmung·Esen KiyanFeza Deymeer
Jul 31, 2009·Cancer Causes & Control : CCC·Christine M MuellerMark H Greene
Mar 17, 2010·International Journal of Cardiology·Valérie LaurentDominique Babuty
Nov 30, 2010·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Béatrice Brembilla-PerrotPierre Kaminsky
Mar 5, 2011·Clinical Neurology and Neurosurgery·Pierre KaminskyLelia Pruna

❮ Previous
Next ❯

Citations

Jun 8, 2014·La Revue de médecine interne·C JacquetP Kaminsky
Jul 16, 2014·La Revue de médecine interne·G Barone-RochetteUNKNOWN Study Group on Cardiovascular Imaging, CHU Grenoble

❮ Previous
Next ❯

Related Concepts

Related Feeds

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.