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Early Diagnosis Makes a Difference PDF Print E-mail
Written by Administrator   
Friday, 04 February 2011 05:40

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. 

In the context of neuromuscular disorders…

Benefits of early diagnosis to affected children include:

  • Even incurable disorders, including many neuromuscular disorders, are treatable.
  • Don’t stop at “development delay.” Developmental delay is a descriptive label and not an etiologically-based diagnosis.
    The term is used if the clinician is uncertain whether the child will “catch up.” As soon as a diagnosis is established, however, an appropriate treatment program and diagnosis can be established.
  • Early initiation of a disease-specific care plan may improve outcomes.
    See Resources section for published care recommendations.
  • 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 recommend for a disorder.
    For example, some strengthening exercises may have no benefit in some degenerative muscle diseases.
  • 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.
    Most causes of motor weakness are genetically based, and parents who have one affected child have an increased risk to have another affected child. Diagnosis allows families to access family planning, if they wish. Options include carrier testing, prenatal testing, pre-implantation diagnosis, and the use of donor gametes. A referral for genetic counseling is recommended if a genetically-transmitted disease is suspected or diagnosed.
  • 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.


Last Updated on Wednesday, 04 April 2012 00:36

Did you know?

If transaminases (AST and ALT) are elevated, check CK. Since AST/ALT can come from muscle or the liver, while CK comes only from muscle, this test will help localize the child's problem and may prevent unnecessary liver tests.