مشخصات مقاله:
عنوان فارسی مقاله:
نقش در حال گسترش ژنتیک در فلج مغزی
عنوان انگلیسی مقاله:
The Expanding Role of Genetics in Cerebral Palsy
کلمات کلیدی مقاله:
فلج مغزی، ژنتیک توالی Exome
کلمات کلیدی انگلیسی:
Cerebral palsy – Genetics – Exome sequencing
مناسب برای رشته های دانشگاهی زیر:
پزشکی
مناسب برای گرایش های دانشگاهی زیر:
مغز و اعصاب، ژنتیک پزشکی
وضعیت مقاله انگلیسی و ترجمه:
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فهرست مطالب:
Key points
Introduction
Cerebral palsy
A Brief Definition
Common Risk Factors
Typical Work-up
Why Consider Genetic Studies?
Genetic testing overview
Common Genetic Studies
Common Metabolic Studies
Management strategies
Summary
Disclosure
References
قسمتی از مقاله انگلیسی:
INTRODUCTION
Cerebral palsy is a clinical diagnosis of a nonprogressive developmental disorder of motor impairment.1 It was previously thought to be related to brain injury or a developmental brain malformation but the scope of the diagnosis of cerebral palsy has been broadening significantly in recent years to include patients with genetic disorders. The advent of novel genetic testing has been able to give patients who previously had a vague diagnosis of presumed or so-called MRI-negative cerebral palsy a more specific cause.There is more attention on genetic causes for cerebral palsy, and previous articles quote a range from 30%2 to approximately between 70% and 80% of cerebral palsy attributed to perinatal causes are secondary to a genetic cause.3 Previous literature focused on cerebral palsy masqueraders4 and there has been an expansion as well as overlap of phenotypes of conditions with the discovery of new genes. At the time of writing, there are more than 800 genes in the Online Mendelian Inheritance in Man (OMIM) database available online at https://www.omim.org associated with cerebral palsy, representing more than 900 clinical conditions. This article helps clinicians to determine what patients would benefit from a more thorough genetic/metabolic evaluation and helps to delineate an approach for the work-up, with an emphasis on newer technologies and the evolving fields of fetal medicine and genetics. It is not meant to be an exhaustive list of genes and conditions related to cerebral palsy but provides guidance to providers to assist in clarifying a cause for some patients’ symptoms.