Refer for diagnosis

An infant with SMA may rely on your prompt recognition of potential SMA signs4 and rapid referral to a specialist neuromuscular center5,6

A prompt and direct referral will enable:4,5

Early access to specialist care5

Timely genetic testing6

Early medical intervention to limit disease progression4,5

Achievement of optimal outcomes4,5

continual clinical vigilance

As a physician, you are uniquely placed to be alert to the signs and refer immediately to a pediatric neurologist.4–6 Unless there is a family history, diagnosis is generally prompted by the clinical signs of SMA6

Be alert to the SMA warning signs3

If you suspect SMA act immediately2

Refer urgently to a pediatric neurologist5,6

Discussing concerns over a child’s development is often challenging, this can be a stressful time for parents and caregivers.7,8 It is vital to use your clinical judgement,2 as early diagnosis of SMA is essential5,9

Your rapid referral is vital to optimize outcomes in SMA4,5,10


  • 1. Kolb SJ and Kissel JT. Neurol Clin. 2015;33(4):831–46.
  • 2. Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.
  • 3. Wang CH, et al. J Child Neurol. 2007;22(8):1027–49.
  • 4. Qian Y, et al. BMC Neurol. 2015;15:217.
  • 5. Govoni A, et al. Mol Neurobiol. 2018;55(8):6307–18.
  • 6. Mercuri E, et al. Neuromuscul Disord. 2018;28(2):103–15.
  • 7. Lurio JG, et al. Am Fam Physician. 2015;91(1):38–44.
  • 8. Mammas IN and Spandidos DA. Exp Ther Med. 2018;15:3673–9.
  • 9. Glascock J, et al. J Neuromuscul Dis. 2018;5(2):145–58.
  • 10. Schorling DC, et al. J Neuromuscl Dis. 2020;7:1–13.