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Young girl in wheelchair

Neuromuscular Medicine Program

Warning Signs of Neuromuscular Disease

Young girl in wheelchair

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.