Early Diagnosis Makes a Difference

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:

  • Even incurable disorders, including many neuromuscular disorders, are treatable.  There are now FDA approved therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.
  • Don’t stop at “development delay.” Developmental delay is a descriptive label and not an etiologically-based diagnosis.
  • Early initiation of a disease-specific care plan may improve outcomes.
  • A delay in diagnosis will delay access to information about care options, relevant clinical trials, and support networks for a specific disorder.
  • Not having an accurate diagnosis may result in a child missing appropriate therapies or receiving therapies not recommended for a disorder.
  • Delays in diagnosis often impede access to services, including Early Intervention and other health care services.

Benefits of early diagnosis to families include:

  • Early diagnosis facilitates access to genetic counseling to learn about family planning options.
  • 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.

Genetic testing for Duchenne muscular dystrophy:

  • If you suspect Duchenne Muscular Dystrophy, FREE genetic testing and genetic test interpretation is available through the Decode Duchenne Program

Development Delays ---> Do a CK

Child Muscle Weakness diagnostic algorithm chart