ICNC Abstracts, ICNC 2018

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UK initiative to speed up diagnosis of Duchenne muscular dystrophy worldwide
Henriette van Ruiten, Mayhew Anna, Helen Aspey, Robert Muni Lofra, Volker Straub, Michela Guglieri

Last modified: 2018-09-09

Abstract


Clinical outcome for patients with Duchenne muscular dystrophy (DMD) has significantly changed over recent years. New therapies are becoming available, standards of care have been agreed and implemented and promising therapeutic approaches are in development. It is well recognised that early access to therapies can significantly impact long term outcomes and quality of life. However, delays in diagnosis remain a significant concern worldwide.

DMD, like most neuromuscular disorders, first presents with abnormal motor development. Currently, these abnormal motor skills are often not recognised early enough, leading to delays in diagnoses. In addition, there is limited awareness of neuromuscular disorders and treatment progress in this field.

In collaboration with the Royal College of Paediatrics and Child Health (RCPCH) and with the support of PTC Therapeutics, we have developed an e-learning course focused on recognition of abnormal motor development. This course is freely available and contains real life video material of children with normal and abnormal motor development and teaches a basic motor skill assessment to be used in primary care. The course contains videos of children with various neuromuscular disorders and also discusses the recent improvements in management, treatment and care.

The comprehensive approach of this course will aid in speeding up the diagnosis of DMD worldwide, but also of other paediatric neuromuscular disorders such as Spinal Muscular Atrophy (SMA) for which an early diagnosis is even more paramount in view of recently approved treatment (Nusinersen) and exciting new therapeutic approaches such as gene therapy.


Keywords


Duchenne muscular dystrophy, diagnosis, course, international

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