Early Diagnosis
Learn the steps to identify pediatric muscle weakness and signs of neuromuscular disease.
Evaluating motor milestones can lead to early, specific diagnosis of pediatric neuromuscular disorders which is beneficial to affected children and their families.
Benefits of early diagnosis to affected children include:
- Accurate understanding of the child’s disease
Don’t stop at “developmental delay.” Developmental delay is not an etiologically-based diagnosis. A more descriptive diagnosis may result in a child receiving appropriate therapies at the appropriate time. - 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 for numerous neuromuscular disorders, 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 disease-specific support networks which can provide beneficial education and support. - 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
