alexa Four Rare Neurogenetic Disorders: Underlying Mechanisms And Management
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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2nd World Congress on Rare Diseases and Orphan Drugs
June 29-30, 2017 London, UK

William S Baek
Parkside Medical Group, USA
Posters & Accepted Abstracts: J Genet Syndr Gene Ther
DOI: 10.4172/2157-7412-C1-013
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.
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