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)