New e-learning module to support early recognition of neuromuscular disorders - supported by PTC Therapeutics

A new e-learning module to support early recognition and diagnosis of neuromuscular disorders has been launched by the Royal College of Paediatrics and Child Health (RCPCH)

Early recognition and diagnosis can help improve outcomes in children with neuromuscular disease (Photo: Cecilia Magill/Science Photo Library)
Early recognition and diagnosis can help improve outcomes in children with neuromuscular disease (Photo: Cecilia Magill/Science Photo Library)

The module provides GPs and other health professionals with practical guidance on recognising abnormal motor development, types of neuromuscular disorder and referral.

Neuromuscular disease affects the nerves, muscles and the neuromuscular junction and the prevalence is approximately 0.5 per 1,000 children.1 The three most common neuromuscular disorders in children are Duchenne muscular dystrophy, spinal muscular atrophy and Charcot Marie Tooth Disease.1

Recognising neuromuscular disorders – A practical approach

This free e-learning module provides practical guidance on recognising abnormal motor development, types of neuromuscular disorder and referral. Log in to RCPCH Compass, create an account, click on the e-learning icon and select the course ‘Recognising neuromuscular disorders’.

The editorial content of this article has been independently written by Haymarket Media Group Ltd and reviewed by PTC Therapeutics. The production and distribution of this article has been funded by PTC Therapeutics.

Early recognition and diagnosis can help improve outcomes by ensuring children can begin treatment much earlier, which has the potential to enhance mobility and prolong life.

The e-learning module provides video examples of normal and abnormal motor development in children of different ages, plus advice on how to refer to specialist services. There is also further information on the seven most common muscle-wasting conditions, including clues to diagnosis and available treatment options.

Early diagnosis

The content was developed by a team of medical specialists and physiotherapists from the John Walton Muscular Dystrophy Research Centre in Newcastle and the Great North Children's Hospital, also in Newcastle.

Dr Henriette van Ruiten, paediatric neurologist at Great North Children’s Hospital, who was involved with developing the module, said: 'For several years, these rare genetic diseases have been considered without a treatment, but just last year revolutionary new drugs have been approved that if used early – from as young as three months old in some conditions – have the power to greatly enhance muscle strength, improve quality of life and survival.

'However, early diagnosis is key, the longer diagnosis is left, the more the muscles are damaged and the more severe the condition becomes. This makes treatments less effective.

'This new e-learning program can be used to help health professionals spot the early signs of muscle disorders. Only with early diagnosis can patients gain quick access to the new drugs and trials on offer and this will ultimately improve outcomes.'

  • To access the e-learning module create an account on RCPCH Compass here. Click on the e-learning icon and select the course ‘Recognising neuromuscular disorders’.

The e-learning module has been supported by a financial grant from PTC Therapeutics. PTC Therapeutics has had no involvement in the development of the content of the module.

Reference
1. BPNA. Neuromuscular Family Care Officers: position statement of the British Paediatric Neurology Association. 

Date of preparation: May 2018; ATA/DMD/UK/18/0066

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