Early Diagnosis
Learn the steps to identify pediatric muscle weakness and signs of neuromuscular disease.
Why is it important to evaluate motor milestones? Because early, specific diagnosis of pediatric neuromuscular disorders is important to families and beneficial to affected children.
Benefits of early diagnosis to affected children include:
- Accurate understanding of the child’s disease
Don’t stop at “development delay.” Developmental delay is a descriptive label and not an etiologically-based diagnosis. Not having an accurate diagnosis may result in a child missing appropriate therapies or receiving therapies not recommended for a disorder. - Early initiation of a disease-specific care plan may improve outcomes
Even incurable disorders, including many neuromuscular disorders, are treatable. There are now FDA approved therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. Delays in diagnosis often impede access to services, including Early Intervention and other health care services.
Benefits of early diagnosis to families include:
- Early access to support
Early diagnosis facilitates access to genetic counseling to learn about family planning options, and facilitates access to disease-specific support networks who can provide beneficial education and support to families. - Reduced diagnostic odyssey-related stress
There can be significant family stress with the delay of an accurate diagnosis. Families often see several clinicians before receiving a referral to a specialist familiar with neuromuscular disorders and may experience unnecessary testing.
Explore Digital Tools
Our web-based toolkit provides steps to identify pediatric muscle weakness and signs of neuromuscular disease.
Development Delays ---> Do a CK
