This site is intended for healthcare professionals only. Designed and funded by Novartis Gene Therapies, formerly known as AveXis, in partnership with the SMA community.
Neuromuscular diseases (NMDs) can present in the first few months of life.1 Because of this, community midwives, health visitors, nurses and other allied health professionals are uniquely placed to spot the signs. Often, the faster a baby is diagnosed, the sooner they receive treatment and support and the better their outcomes.2
Head lag Hypotonia (floppiness) Inability to reach
an inability to reach
They could be the first signs of a neuromuscular disease (NMD) so it is important to refer for urgent review by a GP if any of these are seen or suspected.
Fast diagnosis is vital as damage occurring before treatment can be irreversible.2,3
Find out below how you can spot these signs and where to effectively signpost parents and caregivers.
Check for 3 signs of neuromuscular disease (NMD) up to 3 months of age:
Although NMDs are rare, these signs could be early indicators of NMD, and their effects can be significant.2
If you see any of these 3 signs, refer babies to a GP for urgent review
The presence of these signs alone does not necessarily mean there is a problem, or they could be caused by something other than a neuromuscular disease (NMD).6 In particular, hypotonia can be present for a number of reasons.1,5
In the majority of instances you can tell parents that children develop at different rates, so there may be nothing to worry about. But if you or they have any concerns, it is important to make sure and refer the baby to their GP.
This video and milestone map can be shared with parents to support conversations around usual developmental milestones of babies at 3 months.
Parents and caregivers can be directed to www.Think3At3Months.co.uk for additional information.
CONVERSATION GUIDE WITH PARENTS
Click here to see babies demonstrating movement milestones you would expect to see by 3 months
The death of neurons in NMDs is irreversible. This disrupts control of muscles, and in severe cases it can also cause difficulty with swallowing and breathing.1,3
Peripheral neuropathies (such as Charcot-Marie-Tooth disease)
Spinal muscular atrophy (SMA)
Many of the severe NMDs seen in childhood are associated with significant disability or reduced life expectancy, if left untreated
This includes children with severe NMDs who may not survive to adulthood and might be under-represented in the total population estimate.8
Why is it vital to urgently refer any baby with a suspected NMD to a GP?
For children with neuromuscular diseases (NMDs), neuron damage that occurs before treatment can be irreversible, so fast diagnosis is vital.3
For example, in a severe form of a rare NMD called spinal muscular atrophy (SMA) Type 1, 95% of lower motor neurons are lost by 6 months of age. This has devastating effects if left untreated.9
1. McDonald CM. Phys Med Rehabil Clin N Am. 2012;23(3):495–563. 2. ThinkGP. Paediatric neuromuscular disorders - what are they, and how can early diagnosis help? Available at: https://www.thinkgp.com.au/blog/paediatric-neuromuscular-disorders-what-are-they-and-how-can-early-diagnosis-help. Accessed: November 2020. 3. Glascock J, et al. J Neuromusc Dis. 2018;5:145–158. 4. Great Ormond Street Hospital for Children NHS. Brief Developmental Assessment (BDA). Available at: http://www.gosh.nhs.uk/file/1841/download?token=oTvMwb9q. Accessed: November 2020. 5. National Health Service 2018. Hypotonia. Available at: https://www.nhs.uk/conditions/hypotonia#:~:text=Hypotonia%20present%20at%20birth%20is,their%20head%20tends%20to%20flop. Accessed: November 2020. 6. Healthline Parenthood. What you need to know about developmental delay. Available at: https://www.healthline.com/symptom/developmental-delay. Accessed: November 2020. 7. Gillette Children’s Speciality Healthcare. Neuromuscular disorders. Available at: https://www.gillettechildrens.org/conditions-care/neuromuscular-disorders. Accessed: November 2020. 8. Woodcock I, et al. Developmental Medicine & Child Neurology. 2016;58(8):877–883. 9. Govoni A, et al. Mol Neurobiol. 2018;55(8):6307–6318.