Submitted by deb on Tue, 06/28/2011 – 02:56 The Importance to Physicians of Support Groups for Rare Conditions The Genetic Drift Vol. 8: Winter, 1992 Consumer Issues in Genetics Services by Jack Dolcourt, M.D. Neonatologist Support groups have traditionally helped fill the void between the medical system and the daily grind of the everyday world. Support groups…
Submitted by deb on Tue, 07/03/2012 – 18:31 Penn State researcher counts the ways poetess Browning may have had rare diseaseBy Tom Avril; Philadephia Inquirer Staff Writer Scholars have proposed a number of explanations for the muscle weakness and other ailments that plagued the Victorian poet Elizabeth Barrett Browning. But none of these after-the-fact diagnoses – from anxiety…
Submitted by deb on Tue, 03/05/2013 – 00:34 Neurology. 2013 Feb 20. [Epub ahead of print]Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis.Wu F, Mi W, Cannon SC. Source: From the Department of Neurology and Neurotherapeutics (F.W., W.M., S.C.C.) and Program in Neuroscience (S.C.C.), UT Southwestern Medical Center, Dallas, TX. Abstract OBJECTIVE: To…
Submitted by deb on Sun, 11/09/2014 – 21:46 Dichlorphenamide: A Review in Primary Periodic Paralyses. Greig SL; Drugs. 2016 Mar;76(4):501-7. doi: 10.1007/s40265-016-0559-2. Abstract Oral dichlorphenamide (Keveyis™) is a carbonic anhydrase inhibitor that is approved in the USA for the treatment of primary hyperkalaemic and hypokalaemic periodic paralyses and related variants. The efficacy and safety of dichlorphenamide in…
Submitted by deb on Fri, 03/01/2013 – 17:49 Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis. Authors Kil TH, et al. Journal: Eur J Paediatr Neurol. 2010 May;14(3):278-81. doi: 10.1016/j.ejpn.2009.08.004. Epub 2009 Oct 12. Affiliation: Department of Pediatrics, College of Medicine, Konyang University, 685…
Submitted by deb on Mon, 06/27/2011 – 02:57 Giorgio Buzzi, MD, Neurologist Buzzi G, Mostacci B, Sancisi E, Cirignotta F. Sleep complaints in Periodic Paralyses: a web survey. Functional Neurology 2001, 17 (3). From the Sleep Medicine Unit – Dept. of Neurology S.Orsola-Malpighi Hospital – University of Bologna, Italy. SUMMARY Section 1. Background: K+ and REM sleep homeostasis….
Submitted by deb on Wed, 09/07/2011 – 03:04 For your convenience, arranged by topic, a “shelf” of journal articles on the periodic paralyses. If you have a favorite link to suggest please pass it along. Textbook and Reviews Meola G, Hanna M G and Fontaine B. Diagnosis and Treatment of Muscle Channelopathies. J Neurol Neurosurg Psychiatry 2009;80:360–365. Dr Michael…
Submitted by deb on Thu, 07/26/2012 – 17:00 PLoS One. 2012; 7(7): e40235.Published online 2012 July 10. Splicing of the rSlo Gene Affects the Molecular Composition and Drug Response of Ca2+-Activated K+ Channels in Skeletal Muscle Maria Maddalena Dinardo,#1 Giulia Camerino,#1 Antonietta Mele,1 Ramon Latorre,2 Diana Conte Camerino,1 and Domenico Tricarico1,* The molecular composition and drug responses…
Submitted by deb on Wed, 03/13/2013 – 18:08 Leaky channels make weak muscles: Mutations in the skeletal muscle voltage-gated calcium channel (CaV 1.1) have been associated with hypokalemic periodic paralysis, but how these mutations cause the symptoms of the disorder has always been unclear. In this article the authors describe how they used mice with the CaV 1.1…
Submitted by deb on Tue, 07/03/2012 – 18:45 Measuring quality of life impairment in skeletal muscle channelopathies. Eur J Neurol. 2012 May 19. doi: 10.1111/j.1468-1331.2012.03751.x. [Epub ahead of print] Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; INQoL Group. SourceDepartment of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy. Abstract Link to…