Abstract
This article reviews presentation of inherited neuromuscular disorders, including how to differentiate them from other causes of hypotonia and gross motor delay. Focus is on disorders that have, or may soon have, therapies to improve strength or slow down disease progression. With the recent explosion in genetic testing, the number of genes known to cause inherited neuromuscular disorders has increased exponentially in the last 10 years. Understanding the genetic basis has led to the potential for new therapeutics, aimed both at correcting the genetic deficiency and improving downstream factors to help improve overall function and health. As new treatments for inherited neuromuscular disorders become available, the importance of early diagnosis will be more important than ever for some of these previously lethal disorders.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
