For Healthcare Providers
Care for people living with Duchenne includes a multidisciplinary team of professionals providing coordinated, comprehensive care. While the Duchenne Care Considerations offer details of the surveillance and management of each medical subspecialty area of care, PPMD has additional tools and resources that may be helpful to you. Please let us know if there are tools and/or resources that you do not see, that you feel might be helpful.
Signs and Symptoms of Duchenne
Identifying neuromuscular diagnoses can be difficult. The signs may be subtle variants of normal behavior and development, and may be hard to discern. PPMD worked with the Center for Disease Control and Prevention (CDC) to develop ChildMuscleWeakness.org, a tool to enable medical professionals to recognize the possible signs of neuromuscular disorders and to seek diagnosis.
In Duchenne muscular dystrophy, signs and symptoms often begin in early infancy. Delayed milestones such as sitting, walking and talking are the most noticeable, but there are other signs and symptoms as well. Learn more about the signs and symptoms of Duchenne.
If your family is still in the observation stage, the American Academy of Pediatrics has developed the Physical Developmental Delays: What To Look For tool to help parents know if and when to seek additional advice and testing for their child.
How to Diagnose Duchenne
- Order a CK: If you have any suspicion that your patient may have gross motor or speech delay, draw a CK.
- Genetic testing: If an elevated CK is discovered, the second step in diagnosis is genetic testing, which is the best way to obtain exact genetic information for a conclusive Duchenne diagnosis. This can be initiated by either the primary care provider or before/after a referral to a pediatric neurologist familiar with Duchenne (for a list of PPMD Duchenne Care Centers, click here). PPMD has a genetic testing program called Decode Duchenne that provides free genetic testing and counseling eligible individuals.
- Elevated liver enzymes: due to the metabolism by the liver of muscle breakdown that occurs in Duchenne, liver enzymes in this disease (AST, ALT) are always elevated. These elevated enzymes are indicative of Duchenne, not of liver dysfunction. For this reason, further evaluation of liver function (i.e., liver biopsy, referral) in generally not necessary.
Supporting a Diagnosis of Duchenne
Delivering difficult diagnoses is, well, difficult. PPMD has developed some tools that we hope will be helpful.
- Delivering the Diagnosis: PPMD convened a meeting of parents and professionals to discuss suggestions for professionals to assist in delivering this diagnosis to families, and to begin to help families adapt to this devastating diagnosis. The resulting summary article from this meeting, Facilitating family adjustment to a diagnosis of Duchenne, may be helpful for you.
- Materials for Families: We know that this devastating diagnosis is stressful for parents. To help relieve that stress, and to give parents enough, but not too much information, we have a section on the PPMD website specifically for families who have been recently diagnosed. Here we have provided tools to manage the first 30 days, identify what parents need to know now, and how they can get support.
- Obtaining Comprehensive Care: PPMD’s network of Certified Duchenne Care Centers are centers that are capable of providing comprehensive Duchenne care in agreement with the Care Considerations (see ‘Caring for Duchenne’, below). Each of these centers include sub-specialists with Duchenne expertise across the spectrum and lifespan of the disease. These centers exist as a resource to both you and your families. If you need assistance in accessing the CDCC network, a center in your area or have questions/need resources that you are having difficulty accessing, please contact PPMD.