Hear from the experts: Paediatric orthopaedists – a critical role in the diagnosis and management of NMD/DMD

Early and accurate diagnosis is critical for patients with suspected neuromuscular disease (NMD) and Duchenne muscular dystrophy (DMD).1 NMDs are not as rare as you might think (~160 per 100,000 population)2 and DMD is the most common and most severe form of muscular dystrophy in children.3,4

Learn about the ideal referral pathway for children with suspected NMD or DMD and the pivotal role played by paediatric orthopaedists from a panel of experts in this webinar.  

Watch now to find out more about:

  • The need for early recognition of red flag signs and symptoms of DMD   
  • The opportunity that paediatric orthopaedists have to identify children with developmental delay and suspected NMD  
  • The ideal referral pathway for children with suspected NMD/DMD​  
  • The benefit of surgical interventions for children with DMD 
  • Real-world examples using clinical case studies

Vladimir Kenis and Sergey Ryabykh discuss the crucial role of paediatric orthopaedists in the early diagnosis of children with suspected NMD/DMD. Vladimir Kenis, Paediatric Orthopaedic Surgeon, draws from experience as Head of Department of Foot & Ankle Surgery, Neuroorthopaedics, and Skeletal Dysplasias, at The Turner Institute for Children’s Orthopaedics, in Saint-Petersburg, Russia. He is joined by Sergey Ryabykh, the deputy CEO of the Priorov National Medical Research Center of Traumatology and Orthopedics, the largest base of scientific research in the field of diagnostics and treatment in traumatology, orthopaedics, bone pathology and rehabilitation, both in adult patients and in children in Russia.

The webinar was organised, funded and hosted by PTC Therapeutics.

Additional Q&As

Due to time constraints, our panel were unable to answer some of the questions submitted by the audience during the webinar. Instead, they dedicated time to answering them after the webinar and their responses can be found below:

Dr Kenis

In terms of disease milestones, is there one you focus on with your patients? Do you focus more on physical function or lung function for example?
As a paediatric orthopaedist I mostly focus on motor function milestones in my patients. For me, the most important thing is early detection and preventing the development of contractures, as they are the most debilitating complication for these patients. For this, we tend to use motor function scale assessment and time function tests, as they measure disease progression and can help signal when treatment and rehabilitation are needed.

What is your top priority when managing patients? 
My priority is to prevent or delay development of complications. We need to monitor patients regularly to detect any signs of contractures or pulmonary function decrease. With that approach, we can help patients remain ambulant and independent for as long as possible.  

Please throw some light on non-orthopaedic problems associated with DMD and progression in other organs like lungs and heart. 
Cardiac and pulmonary failure are the most common reasons leading to the death of patients with DMD. In patients above 10 years old, it’s critical to monitor heart and lung function by instrumental methods like ventilatory function assessment, Echo-CG, magnetic resonance imaging (MRI), etc. Many DMD patients aged over 10 years need to take a low dose angiotensin-converting-enzyme (ACE) inhibitor and respiratory support. Consultations with a pulmonologist and cardiologist are mandatory. 

Is it possible to diagnose DMD during pregnancy (in the unborn child)? 
Yes, it’s possible, but not all labs can do that. It may be needed especially in families with a history of DMD.

Dr Ryabykh

Are there any preventive measures we can take to avoid DMD? 
Only considering the family history. If there are risks, prenatal genetic testing may be advisable. 

Is there clinical evidence for the use of CoQ10 or L-carnitine to reduce disease progression?
Unfortunately, the answer to this question is beyond the competence of an orthopaedist. To my knowledge, there is no evidence-based study of their effectiveness.

Are there materials (clinical guidelines) that set out clear criteria for referring a patient with DMD to an orthopaedic surgeon? 
In my presentation, I refer to the work where two key features are substantiated (1) the presence of signs of scoliosis and (2) limited mobility of large joints.1

Could you tell me about the aetiology of DMD? Is it completely hereditary?
The disease is caused by deletions or duplications of one or more exons, or by point mutations in the dystrophin gene. Boys are mostly affected; girls can be too although its rare.

Does chronic steroid treatment interfere with scoliosis surgery?
Yes, osteoporosis limits the use of spinal scoliosis correction systems and determines a high risk of implant-related complications. The risk is extremely high with a Z-scale of less than 2.5 according to densitometry of the lumbar vertebrae.

1. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267.
2. Deenen JC, et al. J Neuromuscul Dis.2015;2(1):73–85.
3. What are the types and symptoms of muscular dystrophy (MD)? National Institute of Child Health and Human Development. Reviewed 9 November 2020. Available at: https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/types [Accessed June 2022].
4. van Ruiten HJ, et al. Arch Dis Child. 2014;99(12):1074–1077.

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