PPT-Disease Progression and Pathogenesis in Congenital Myotonic Dystrophy

Nicholas Johnson MD Assistant Professor of Neurology Pediatrics Pathology University of Utah Disclosures FundingConflicts of Interest NINDS 1K23NS09151101 Center for Disease Control and Prevention DD00110802. Matthew Kaufman, MD. Ophthalmic Pathology CPC. NP Fellow: Ken Clark, . MD. Attending: . Charleen. T. Chu, MD, PhD. Initial Presentation. 50 year-old male with a chief complaint of blurred vision and glare from both eyes. Anjie Zhen, PhD. Summary. Overview of HIV life cycle. Overview human immune responses . HIV pathogenesis . Acquisition of HIV. Acute infection. Chronic infection and markers of progression. AIDS. Overview of HIV life cycle. Presented by:. Sujitha B Subramaniam. 11408044. IV yr Genetic Engineering. SRM University. DUCHENNE MUSCULAR DYSTROPHY.  (. DMD. ) is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty . 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 . 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?. group of inherited . ___________________________________ diseases . muscles enlarge due to . _______________________________ tissue . deposits, . but muscle fibers . _. Caused by a lack of the . cytoplasmic. S H Subramony M.D.. Professor of Neurology and Pediatrics, . University of Florida and McKnight Brain Institute. Center for . Neurogenetics. SOME OF THE UF MYOTONIC DYSTROPHY TEAM. Andy Berglund, John Williamson, William Miles, George . Anesthetic Management of a Myotonic Dystrophy PatientMyotonic Dystrophy Foundationwwwmyotonicorg1Practical Suggestions for the Anesthetic Management of a Myotonic Dystrophy PatientOverviewRisks of ane Dr. . Redab . Al-Ghawanmeh. Objectives. Floppy infant. SMAs. Neuropathies. Muscular dystrophies. Congenital myopathies. Myotonic. dystrophy. Myasthenic. syndromes. Malignant hyperthermia. Floppy infant. . 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 . Glen Nuckolls, PhD. Program Director, Neurogenetics Cluster. Division of Extramural Research. National Institute of Neurological Disorders and Stroke. g. len.nuckolls@nih.gov. NIH . Bethesda Campus . 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. Tiffany Grider, MS, CGC. Certified Genetic Counselor. University of Iowa, Department of Neurology. Plan. Symptoms of Myotonic Dystrophy . Genetics . of Myotonic Dystrophy type 1. Genetics of Myotonic Dystrophy type 2. S H Subramony M.D.. 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 37:58–104.