This site is intended for healthcare professionals only. Designed and funded by Novartis Gene Therapies in partnership with experts.

For babies with Neuromuscular disease (NMD)

making a fast diagnosis is vital

Refer babies by 3 months of age for urgent
review by a GP if you see:

Logo

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

There are 3 signs that should be monitored by 3 months of age:1,2

Circle 1 Head lag Divider Circle 2 Hypotonia (floppiness) Divider Circle 3 Inability to reach

Circle 1

head lag

Circle 2

hypotonia (floppiness)

Circle 3

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.

THINK 3 FOR NMD

Check for 3 signs of neuromuscular disease (NMD) by 3 months of age:

Headlag icon

Head lag1,4

When bringing a baby up into a sitting position from lying on their back, or when baby is placed on their tummy, they should be able to hold their head up for a short period of time, getting gradually stronger and holding their head up for longer as they get older. By 3 months, a baby should be able to hold their head independently and only show slight head lag.

Hypotonia icon

Hypotonia1,5

A baby with hypotonia (floppiness) might feel limp when held, or may be unable to move their arms, legs or neck. When being picked up or held they may be limp and floppy. This can be especially visible when holding them from their tummy.

Inability to reach icon

Inability to reach1,4

Up to 3 months of age, babies are learning to control their limbs and will begin to reach for toys and objects. Look out for a baby who is not reaching out for things.

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

Talking to parents and caregivers

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.

Materials to support conversations with parents and caregivers

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.

Download our milestone map

MILESTONE MAP
Download our guide to support conversations with parents and caregivers

CONVERSATION GUIDE WITH PARENTS
Download our Think 3 at 3 Months poster for parents and caregivers which can be displayed in surgeries and clinics

THINK 3 AT 3 MONTHS POSTER
Watch Video
Video Thumbnail

Developmental milestones at 3 months of age

Click here to see babies demonstrating movement milestones you would expect to see by 3 months

What is NMD?

Neuromuscular diseases (NMDs) are a broad range of disorders that prevent muscles from working normally, by affecting the nerves (“neurons”) that transmit the messages that control them.1 In many NMDs, this is because an essential gene is missing or altered, while others can be triggered by immune system disorders.7

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

Examples of NMDs include:7

Muscular dystrophy
 

Mitochondrial myopathies

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

Spinal Muscular Atrophy (SMA): An NMD Case Study

Watch this short video series detailing the story of a family, Bruce, Ashley and baby Hannah, and their journey through referral and diagnosis of SMA. The final video in the series explains the importance of recognising these symptoms as early as possible, to improve the outcomes of children born with SMA

Initial symptoms

Referral and diagnosis

Think 3

PREVALENCE OF NMDs IN CHILDREN IN THE UK:

This includes children with severe NMDs who may not survive to adulthood and might be under-represented in the total population estimate.8

EARLY DIAGNOSIS

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

Watch Richard Pratt, GP, and Diane Massey, Institute of Health Visiting, discuss with Imran Kausar opportunities in primary care to shorten time to diagnosis and referral of babies with SMA, a rare and severe NMD.

Referral

If you suspect neuromuscular disease (NMD),
act now and refer urgently

Prompt diagnosis can save lives

Because neuron death in NMDs can lead to irreversible loss of muscle function, it is vital to act quickly.

If you see a baby who is showing the 3 signs by 3 months, they may have an NMD. Refer them for urgent review by a GP.

This campaign runs alongside a similar initiative with information relevant for parents/caregivers.
Go to the other site:

PARENTS & CAREGIVERS

REFERENCES

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. Date accessed: April 2022. 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. Date accessed: April 2022. 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. Date accessed: April 2022. 6. Healthline Parenthood. What you need to know about developmental delay. Available at: https://www.healthline.com/symptom/developmental-delay. Date accessed: April 2022. 7. Gillette Children’s Speciality Healthcare. Neuromuscular disorders. Available at: https://www.gillettechildrens.org/conditions-care/neuromuscular-disorders. Date accessed: April 2022. 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.