William S Baek
Parkside Medical Group, USA
Title: Diagnosis and Management of Neurogenetic Disorders: a Practical Approach
Biography
Biography: William S Baek
Abstract
Since the beginning of the 21st century the field of Neurogenetics has exploded, generating novel concepts, unveiling mechanisms, and creating the basis for innovative molecule-targeted specific therapies for neurological disorders. Establishing a genetic diagnosis for any neurological condition is critical for understanding the natural course of the disease and managing accordingly; it shall no longer be viewed as medically unnecessary. This has created a paradigm shift towards reclassifying diseases based on the molecular features rather than signs and symptoms. Down syndrome, 22q11.2 deletion syndrome, Angelman syndrome, Prader Willi syndrome, Klinefelter syndrome, Turner syndrome, cri-du-chat (5p deletion), phenylketonuria, neurocutaneous disorders, Duchenne’s muscular dystrophy, Friedreich’s ataxia (1/50,000), myotonic dystrophy, Huntington’s disease(1/10,000), and Charcot-Marie-Tooth disease(1/3000) are among the most common hereditary neurological disorders I would like to present several genetically confirmed cases seen in our outpatient clinic, including practical management of these conditions. This consists of a myriad of cases I have personally diagnosed and treated in an omnibus fashion, such as Fragile X syndrome, horizontal gaze palsy with progressive sclerosis(HGPPS), Smith-Magenis syndrome(SMS), Huntington’s disease, spinocerebellar ataxia(SCA), oculopharyngeal muscular dystrophy(OPMD), and fascioscapulohumeral muscular dystrophy(FSHMD) with review of the literature.