William S Baek
Parkside Medical Group
USA
Title: Four Rare Neurogenetic Disorders: Underlying Mechanisms and Management
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 which are fairly well-known.
I would like to present four genetically confirmed cases that are much rarer, with their underlying mechanisms and management in the everyday clinical setting.
These are cases which I have personally diagnosed and treated, such as horizontal gaze palsy with progressive sclerosis(HGPPS), Smith-Magenis syndrome(SMS), X-linked ichthyosis(XLI) and Phelan McDermid (PMD) syndrome, with review of the literature