PPT-MYOTONIC DYSTOPHY: OVERVIEW

S H Subramony MD Professor of Neurology and Pediatrics University of Florida College of Medicine Steinert H 1909 Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker Dtsch Z Nervenheilkd 3758104. Bennett MS CGC Thomas D Bird MD Medical Genetics and Neurology University of Washington Medical Center brPage 2br August 2000 The development and printing of this booklet was funded by the National Institute on Disability and Rehabilitation Research . View this slide show with the Notes Page activated. Then use the bar on the right-hand side to scroll down to read more.. . Commonwealth Vernacular/Definitions: . . Agencies: DOA, VRS, DHRM. Nicholas Johnson, MD . Assistant Professor of Neurology, Pediatrics, Pathology. University of Utah. On behalf of: JD Franklin, E Nasser, E . Luebbe. , J Hilbert, KA Hagerman, JW Day, E . Ciafaloni. , M Hung, CR . & Myotonic Dystrophy. Presented by : . Janel Phetteplace. , . MS. ,. CGC. Janel. -Phetteplace@uiowa.edu. Overview of Genetics. Genes (DNA) Comprise Each Chromosome. . Cell. Chromosome. DNA. DMPK. Lisa Warren, MHS, OTR/L. UF Health Rehab. Client-Centered Approach . Multidisciplinary approach. Healthcare professionals working together for the common goal of improving the patient’s health, function and quality of life. Peg Nopoulos, M.D. Professor of Psychiatry. Ian DeVolder, PhD, MDF Postdoctoral Fellow. Research In Myotonic Dystrophy (DM). Types of Human Research Studies. Should I volunteer for a research study?. Optimizing the evaluation & management of the Myotonic Dystrophy Patient. Ericka Simpson, MD. Director, DM Multidisciplinary Clinic. Director, Neuromuscular Clinical Research. May 18, 2019. Never again….. . therapeutic. . genetic. . sequences. in . muscle. LEONIDAS A. PHYLACTOU. THE CYPRUS INSTITUTE OF NEUROLOGY & GENETICS. Muscular Dystrophy. Group . of muscle diseases . Inherited. Muscle weakness and wasting . Mark Hamilton, . (formerly) Clinical . Research Fellow . West of Scotland Clinical Genetics Service. markhamilton1@nhs.net. Scottish management guidelines for myotonic dystrophy. www.smn.scot.nhs.uk. The Character and Frequency of Muscular Pain in Myotonic Dystrophy and Their Relationship to Myotonia Myotonic dystrophy is the most common form of International Journal ofNeurology and Neurotherapy ANESTHETIC MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Marla Ferschl, MD, Richard Moxley, MD, John W. Day, MD, PhD and Michael Gropper, MD, PhD. Acknowledgement: We gratefully acknowledge Neal Campb What is Myotonic Dystrophy?Myotonic Dystrophy is an inherited neuromuscular condition caused by an abnormality in the DPKM gene, which is located on chromosome 19. The condition is caused by an expan 1 5 th Oslo, Norway, June 29 - July 2, 2019 Teaching Course 17 Congenital myasthenic syndromes and the myotonic dystrophies - diagnostics and possible treatment (Level 3) Myotonic dystrophy 1 and 2 is a muscle disease unrelated to any disorder of innervation or neuromuscular junction. . These . conditions have widely varying etiologies, including congenital or inherited, idiopathic, infectious, metabolic, inflammatory, endocrine, and drug-induced or .