Spinal muscular atrophy (SMA) is a disease which progresses quickly, so every day matters. Noticing signs early is key, because the sooner a baby can receive care from their doctor, the better. If you feel something isn’t right with your baby, or your baby is displaying any of the early signs of SMA, trust your instincts and speak to your doctor
Step 1
See your doctor
Call your doctor or use their online services to book an appointment. You may be able to get an appointment on the same day
Step 2
Be prepared
It’s natural to feel anxious when talking to your doctor about your baby’s development or health. To help you prepare for the discussion, follow these tips:
Note down key signs and concerns you have about your baby’s development
Keep a diary of the changes you notice and the dates they occur
It can be helpful to show your doctor any videos you may have which show lost motor milestones or regression over time, or examples of other signs
Beforehand, write down any key questions you want to ask
Step 3
Discuss your concerns
When speaking to your doctor, the more information you can give them, the better equipped they’ll be to provide the best advice or point you in the right direction. Ask your doctor about next steps and what to expect
References
Cambridgeshire Community Services NHS Trust. Child Development milestones. Available at: https://www.cambscommunityservices.nhs.uk/advice/childhood-development/milestones. Date accessed: November 2023.
Chabanon A, et al. PLoS One. 2018;13(7). doi: 10.1371/journal.pone.0201004.
Glascock J, et al. J Neuromuscul Dis. 2018;5(2):145–58.
Govoni A, et al. Mol Neurobiol. 2018;55(8):6307–18.
Healthy children. Physical Developmental Delays: What to look for. Available at: https://www.healthychildren.org/English/MotorDelay/Pages/default.aspx#/activity/0to7months. Date accessed: November 2023.
Kirschner J, et al. Eur J Paediatr Neurol. 2020 Jul 9:S1090–3798(20)30142–2. Published online ahead of print.
Kolb SJ and Kissel JT. Neurol Clin. 2015;33(4):831–46.
LoMauro A, et al. PLoS One. 2016;11(11):e0165818. doi: 10.1371/journal.pone.0165818.
NIH (2023). Hypotonia. Available at: https://www.ninds.nih.gov/health-information/disorders/hypotonia. Date accessed: November 2023.
Prior TW, et al. 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.
Qian Y, et al. BMC Neurology. 2015;15:217.
SMA UK (2023). SMA Type 2 – Looking After your child who has had a Recent Diagnosis. Available at: https://smauk.org.uk/recent-diagnosis-sma-type-2. Date accessed: November 2023.
SMA UK (2023). Symptoms & Effects of 5q Spinal Muscular Atrophy – Type 1. Available at: https://smauk.org.uk/support-information/about-sma/symptoms-effects-5q-sma/symptoms-type1/. Date accessed: November 2023.
SMA UK (2023). Symptoms & Effects of 5q Spinal Muscular Atrophy – Type 2. Available at: https://smauk.org.uk/support-information/about-sma/symptoms-effects-5q-sma/symptoms-type2/. Date accessed: November 2023.
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