Care at Diagnosis
The specific cause of a medical disorder is called the “diagnosis.” It is very important to establish the exact diagnosis when Duchenne is suspected. Depending on one’s health system, a primary care provider (PCP) may be the first medical professional to hear concerns regarding a child’s weakness or delays. PCPs are typically those multidisciplinary teams, general practitioners or nurse practitioners who specialise in paediatrics, general practice, family medicine, or internal medicine and provide a “medical home.”
The aim of care at this time should be to provide an accurate diagnosis as quickly as possible. A prompt diagnosis will help everyone in the family become informed about Duchenne, provide them with information regarding genetic counselling, and inform them of treatment plans. Appropriate care, ongoing support, and education are essential at this stage. Ideally, a neuromuscular specialist (NMS) will assess your child and can help to start and/or interpret lab and genetic tests correctly, giving an accurate diagnosis.
ChildMuscleWeakness.org and rcpch.ac.uk/resources/recognising-neuromuscular-disorders-elearning are tools to help professionals evaluate patients for developmental delays and possible neuromuscular diagnoses.
The American Academy of Pediatrics (AAP) realizes that parents are most often the first to recognize delays in their child’s development. The AAP developed the “motor delay tool.” This tool helps parents watch the development of their child, assess what is normal development versus delayed development, and know when to be concerned. This tool can be found at: www.HealthyChildren.org/MotorDelay
At the time of diagnosis, it is very important that you see a NMS familiar with Duchenne. Centres offering Duchenne care may be found at the websites listed below:
World Duchenne Organization:
This is also a time when contact with a patient advocacy organisation can be of particular help. You can find patient organisations in your country at