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Parents of children with Duchenne and Becker muscular dystrophy often experience a diagnostic odyssey that is too long and too emotionally difficult. Parents who have shared the story of their diagnoses told us:

“My son’s pediatrician blew off my concerns and told me some children just develop slower than others.  During the following months I repeatedly voiced my concerns to him.”

“And of course a simple CPK test could have saved the trauma caused [by the delay in diagnosis], I saw the clinical signs, I just didn't know what they meant at the time.”

“As someone who has been through the difficult emotional situation and accompanying stress while waiting for a diagnosis, I can say that for us (and most parents it seems) the most difficult part to handle is during that uncertain period when you are hoping for the best but are also consumed with worry over what the worst diagnosis might be for your child.  That uncertainty was just as stressful for us as was receiving the actual diagnosis.”

“If there is one thing I could say to parents, [it] is to not be afraid to express concerns regarding the development of your child and be adamant to pursue follow up…. I was not going to take no for an answer nor that the reason my child is delayed with crawling and walking was that my child was the youngest of 3 children….I knew in my heart it was more.”

Parent Project Muscular Dystrophy, with support from the The Centers for Disease Control and Prevention, created the National Task Force for Early Identification of Childhood Neuromuscular Disorders to address the continued gap between the time when the first symptoms of muscle weakness are noticed and the time of a neuromuscular diagnosis. The Neuromuscular Task Force includes experts in neurology, physical and occupational therapy, primary care, genetics, rehabilitation medicine, as well as experts from advocacy organizations that represent pediatric neuromuscular disorders. The goal of the Neuromuscular Task Force is to make diagnosis of neuromuscular disorders happen sooner after the first symptoms emerge. We stress the importance of an early diagnosis for the child with muscle weakness, and for the entire family.

 

 

We are just wrapping up the Neuromuscular Task Force program. The Task Force developed a new web-based diagnostic tool to assist providers in primary care, rehabilitation medicine, and physical and occupational therapy in identifying the early symptoms of muscle weakness that is associated with neuromuscular disorders. You can go to ChildMuscleWeakness.org to see the expert consensus recommendations and guidelines:

 

  • Motor Surveillance Aid for Primary Care
  • Motor Surveillance Aid for Therapists and Specialists
  • Motor Delay Algorithm (for screening and referral)
  • Video Library (showing manifestations of weakness)
  • Clinical Evaluation Guide
  • Developmental Delay, Do a CK Guide
  • Signs of Weakness by Parent Report Guide
  • Supporting Parents Guide
  • Case Studies

 

These and other supporting materials are available at ChildMuscleWeakness.org, free of charge. The core tools (available as a downloadable clinical and teaching guide) have been endorsed by the American Academy of Pediatrics. Please share information about this website with your healthcare providers! If you have questions or comments about the Neuromuscular Task Force, please contact me at info@childmuscleweakness.org.


Holly Peay, Sr. Director, Education & Outreach
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