The specific cause of a medical disorder is called the diagnosis. It is very important to establish the exact diagnosis when DMD is suspected by your physician. The aim of care at this time should be to provide an accurate diagnosis as quickly as possible. With prompt diagnosis, everyone in the family can be informed about the general course of DMD, provided with genetic counseling and told of treatment options. Appropriate care can be put in place and ongoing support and education can be provided to the family. Ideally, diagnosis should be performed by a physician who is a neuromuscular specialist and who can assess the child clinically and can initiate and interpret investigations properly. Family follow-up and support following diagnosis will often be supplemented by support from genetic counselors.
Information based on consensus statement (published in January 2010)