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Neuromuscular Medicine Program

Warning Signs of Neuromuscular Disease

Your child may be referred for neuromuscular evaluation when certain conditions have been observed, if there is a family history of neuromuscular disease, or suspicion for a neuromuscular condition based on prenatal testing or newborn screening.

We highly encourage providers to have awareness regarding the newborn screening process for neuromuscular diseases. Any positive result for a neuromuscular condition should be referred promptly to our clinic.

Reasons for referral or evaluation to the Neuromuscular Medicine Program include:

  • Low muscle tone (hypotonia, "floppy infant")
  • Difficulties with eating (choking/coughing/not gaining weight)
  • Absent or reduced reflexes
  • Delay in meeting developmental motor milestones
  • Frequent falls and difficulty of the child keeping up with their peers
  • Arthrogryposis (as well as other foot abnormalities such as high arches, toe walking, Achilles tendon contracture)
  • Elevated creatine kinase (CK) level
  • Prenatal testing/carrier testing/or confirmed testing in fetus for a neuromuscular disease
  • Positive newborn screening (Pompe disease and spinal muscular atrophy) 

Contact Us

For more information, call Program Coordinator Kathleen Smart.