There are some neurological conditions that are caused by single gene variants that affect the normal function of muscles and the nervous system (eg neuropathies, myopathies, ataxias). There are also a large number of complex neurological conditions caused by an interplay of genetic and environmental factors.1,3
Many, but not all, paediatric neuromuscular disorders are genetic in nature. These disorders begin in childhood and affect the peripheral nervous system at varying locations.
Although paediatric neuromuscular disorders are rare, the more common ones are:
- Spinal muscular atrophy: incidence around 1 in 10,000 births4
- Duchenne muscular dystrophy: incidence around 1 in 5000 male births5
- Charcot–Marie–Tooth disease: incidence around 1 in 2500 births.6
Genetic studies continue to identify variants that contribute to complex neurological conditions; however, there is currently no role for general practitioners (GPs) in ordering genetic testing for these conditions.