PDF-Genetic Testing for Neuromuscular Disorders

Page 1 of 28 UnitedHealthcare Commercial Medical Policy Effecti ve 10012021 Proprietary Information of UnitedHealthcare Copyright 202 1 United HealthCare Services Inc UnitedHealthcareCommercia. Overview of the Neuromuscular System . Nervous . system and muscles are working together to . allow movement . In order t. o . move a part. of . your . body, . a message is sent to particular nerve cells which are called upper motor neurons. . Overview of the Neuromuscular System . Nervous . system and muscles are working together to . allow movement . In order t. o . move a part. of . your . body, . a message is sent to particular nerve cells which are called upper motor neurons. . College of Medicine. K K U Abha K S A. PRENATAL DIAGNOSIS. It introduces option for management. From interruption of abnormal pregnancies to prepare for specialized peri-natal care.. PRENATAL Dx.------CONT.. Risks and Benefits of Knowing Your Genetic Makeup. Julie Hopp. Genetic Screening: Who Should Be Tested. CDC’s 2004 Science Ambassador Program. Overview. Genetics Review. Types of Genetic Disorders. Ben Ho Park MD PhD. Johns Hopkins University. Financial Disclosures. I have financial relationships with commercial entities that are relevant to the content of this presentation.. Royalties from Horizon Discovery, LTD. Genetic disorders can be due to any of the following factors:. A. Monogenetic Disorders: Caused by a mutation in a single gene. Autosomal. recessive alleles:. a. You may be a carrier and not know it, since the dominant allele masks the recessive.. CP Biology. Genetic Disorders. Major types of genetic disorders:. Autosomal. Single genes. Multiple genes. Sex-linked. Chromosome abnormalities. Autosomal Disorders. Autosomal genetic disorders . are caused by alleles on autosomes (chromosomes other than the sex chromosomes). CLINICAL INFORMATIONIntroductionMitochondrial disorders are a group of related, clinically diverse, genetic diseases with a prevalence of 1/5,000 to 1/8,500 that result from dysfunction of the mitocho Dr. . Redab . Al-Ghawanmeh. Objectives. Floppy infant. SMAs. Neuropathies. Muscular dystrophies. Congenital myopathies. Myotonic. dystrophy. Myasthenic. syndromes. Malignant hyperthermia. Floppy infant. Chris Heine, MD. Medical University of South Carolina. Updated 4/2019. Disclosures. No relevant financial relationships. Learning Objectives. Describe the different classes of neuromuscular disorders. Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . Christina Dailey, MS, CGC. Christina Dailey, MS, CGC . M Health Fairview. Program Objectives. At the end of this presentation, the healthcare provider audience for this speaker deck should be able to: . Chad Ramsey. Vice President, Policy, Ovarian Cancer Research Alliance. Vanessa Cramer. Director, Policy, Ovarian Cancer Research Alliance. Sponsored by. : Genentech, Inc.. Agenda . Setting the table: Timeline & key terms . January 6, 2020. 1. *Disclaimer: MDA and the contributing authors are not responsible for any changes, edits and redistribution of this program, and are solely responsible for the original copy only, which may be found on mda.org: .