What are neuromuscular disorders?

Neuromuscular disorders encompass a wide range of diseases that affect the voluntary muscles and the nerves that control them.1

They are generally classified depending on the location of involvement, and include:1

Disorders of the muscle (e.g. Duchenne muscular dystrophy)

Disorders of the neuromuscular junction (e.g. congenital myasthenic syndrome)

Disorders of the motor neuron (e.g. spinal muscular atrophy)

Disorders of the peripheral nerve (e.g. Charcot-Marie-Tooth disease)

The majority of neuromuscular disorders that present in childhood have a genetic basis.1 The most commonly encountered genetic paediatric neuromuscular condition is Duchenne muscular dystrophy, which affects 1 out of every 3,600–6000 newborn males worldwide.1-4

What are the signs and symptoms of neuromuscular disorders?

Children with neuromuscular disease experience progressive muscle deterioration and an ongoing decline in physical function.5 The earliest and most common sign of neuromuscular disease is muscle weakness, which manifests as delayed motor development.4,6 Delays in language, speech and cognition should also prompt suspicion that something may be wrong.4,7–9 To learn more about red flag signs and symptoms click here.

Monitoring motor development can help to identify developmental delay earlier, allowing for timely referral to aid the diagnostic process.7

Why early diagnosis matters

Even though neuromuscular diseases are not curable, management and treatment options are available. 10,11

An early diagnosis can facilitate access to the right treatment and services, which may help improve outcomes and help to avoid life-threatening complications. 4,6,10

An early diagnosis can help improve outcomes and avoid life-threatening complications4,6,10 If you suspect a neuromuscular disorder, order a creatine kinase (CK) blood test, click here to learn more.

1. Dowling JJ, et al. Am J Med Genet A. 2018;176:804–841.
2. Goemans N, et al. Eur Neurol Rev. 2014;8:78–82.
3. Bushby K, et al. Lancet Neurol. 2010;9:77–93.
4. van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077.
5. Theadom A, et al. Neuroepidemiology. 2014;43:259–268.
6. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
7. Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.
8. Miller N, et al. S Afr J Commun Disord. 2012;59:27–33.
9. Cyrulnik SE, et al. J Pediatr. 2007;150:474–478.
10. Birnkrant DJ, et al. Lancet Neurol. 2018;17(3):251–267 [Part 1].
11. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child Muscle Weakness. 2019. Available at: www.childmuscleweakness.org [last accessed November 2020].

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