Gene Testing for Limb-Girdle Muscular Dystrophy What, When, How
Thursday, November 30, 2023
Muscular dystrophy represents a constellation of different disease states defined by progressive muscle weakness and typically caused by specific gene mutations. Duchenne muscular dystrophy (DMD) is caused by a genetic mutation in the dystrophin gene, which leads to a defect in production of dystrophin. Limb-girdle muscular dystrophy (LGMD) consists of a collection of more than 30 heterogeneous neuromuscular diseases from a similar number of different genetic mutations. Because these diseases have overlapping symptoms in many cases, appropriate testing is needed to provide the correct diagnosis in order to utilize the most appropriate therapies. As more targeted RNA and gene-based therapeutics become clinically available, there is a need to provide educational resources on timely diagnosis, clinical data on emerging therapies, and recommendations for how newer therapies can be used in practice.
The educational activity presented above may involve simulated, case-based scenarios. The patients depicted in these scenarios are fictitious and no association with any actual patient, whether living or deceased, is intended or should be inferred. The material presented here does not necessarily reflect the views of Medscape, LLC, or any individuals or commercial entities that support companies that support educational programming on medscape.org. These materials may include discussion of therapeutic products that have not been approved by the US Food and Drug Administration, off-label uses of approved products, or data that were presented in abstract form. These data should be considered preliminary until published in a peer-reviewed journal. Readers should verify all information and data before treating patients or employing any therapies described in this or any educational activity. A qualified healthcare professional should be consulted before using any therapeutic product discussed herein.
Medscape Education© Medscape, LLC