Neuromuscular Disease Network for Canada

New publication from Dr. Kate Regnier, with Dr. Craig Campbell (Investigator) as a co-author. Standards for Substantive Equivalency between Continuing Professional Development/Continuing Medical Education (CPD/CME) Accreditation Systems https://pubmed.ncbi.nlm.nih.gov/33552679/ ... The International Academy for Continuing Professional Development Accreditation (IACPDA) is dedicated to advocating for and enhancing the development, implementation and evolution of continuing medical education (CME)/continuing professional development (CPD) accreditation systems throughout the world by providing an opportunity for individuals in leadership positions to (a) learn about the values, principles and metrics of varying CME/CPD accreditation systems; (b) explore the accreditation standards for CME/CPD provider organisations and activities under differing systems; and (c) foster evaluations to measure the impact of CME/CPD accreditation systems on physician learning, competence, performance, and healthcare outcomes. IACPDA has developed a shared set of international standards to guide the accreditation of CME/CPD for medical doctors and healthcare teams globally, which have been adopted in the Cologne Consensus Conference on 10 September 2020. These standards will also be used to determine substantive equivalency between accrediting bodies.

New publication from Dr. Kanokkarn Sunkonkit, with Dr. Reshma Amin (Investigator) as a co-author. Congenital central hypoventilation syndrome and ventilatory responses during cardiopulmonary exercise testing https://pubmed.ncbi.nlm.nih.gov/33524248/... Background: Previous studies have shown evidence of hypoxemia and hypercapnia during cardiopulmonary exercise test (CPET) evaluation in children with congenital central hypoventilation syndrome (CCHS). However, there are no longitudinal studies which compared CPET findings to polysomnogram (PSG) or PHOX2B mutation, to date. Objectives: To describe the longitudinal CPET findings in a cohort of children with CCHS and correlate the findings to the PSG results. Methods: This retrospective study was conducted in children with CCHS followed in the Long-term Ventilation Program at SickKids, Toronto, Canada between September, 2013 and January, 2020. CCHS genetic mutation, age of diagnosis, ventilatory support, family history, disease associations of CCHS, CPETs, and PSG parameters were recorded and analyzed. Results: A total of nine patients with CCHS (46 CPETs and 46 PSGs) were enrolled. Four (44.4%) children had polyalanine repeat mutations. The mean (SD) age at the time of diagnosis and duration of ventilatory usage were 3.2 3.4 years and 11.5 2.8 years, respectively. All abnormal CPETs had hypercapnia in at least 1 phase of the exercise test. Hypercapnia (12/46; 26.1%) at peak of exercise was the most common abnormality. None of the children experienced an oxygen desaturation below 90%. End-tidal CO2 (PetCO2 ) at rest and at peak exercise in the CPETs were significantly correlated with PSG TcCO2 while PetCO2 at anaerobic threshold was correlated with CO2 in pre-PSG capillary blood gas. Conclusion: Nocturnal hypoventilation may impact the CPET results in CCHS children. Serial CPETs should be considered standard clinical care for all CCHS children.

New publication from Dr. Maryam Oskoui (NMD4C Investigator) Transient hyperreflexia: An early diagnostic clue in later-onset spinal muscular atrophy https://pubmed.ncbi.nlm.nih.gov/33520420/

New publication from Dr. Jim Dowling (NMD4C Steering Committee Member). Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses https://pubmed.ncbi.nlm.nih.gov/33512901/

Read about the successes over the 10-year history of the Canadian Neuromuscular Disease Registry!

Webinair COVID-19 et MNM: Demandez aux experts DEMAIN 5 février 2021, 15 h heure de l'Est (États-Unis et Canada) http://bit.ly/COVIDVaccines2021 Dystrophie musculaire Canada (DMC) et le Neuromuscular Disease Network for Canada (NMD4C) ont le plaisir de vous inviter à une session concernant les questions liées au vaccin contre la COVID-19 pour les personnes atteintes de maladies neuromusculaires. Les réponses seront fournies par des experts dans le domaine :... Dr. Hans Katzberg, spécialiste des maladies neuromusculaires de l'adulte et chercheur en maladies neuromusculaires Dr. Hanns Lochmüller, spécialiste neuromusculaire pédiatrique et chercheur en maladies neuromusculaires Dr. Reshma Amin, pneumologue et chercheur en maladies neuromusculaires Dre Megan Bettle, directrice de l'équipe d'intervention réglementaire COVID-19 à Santé Canada / Gouvernement du Canada Dr. Allison McGeer, spécialiste des maladies infectieuses et chercheuse COVID-19 Dr Anne Pham-Huy, spécialiste des maladies infectieuses et présidente d'Immunize Canada Cette séance s'adresse principalement aux Canadiens personnellement touchés par des maladies neuromusculaires et aux membres de leur famille. Toutefois, les cliniciens, les universitaires, les stagiaires qui s'intéressent aux maladies neuromusculaires et les partenaires de l’industrie sont les bienvenus. Pour toute question, veuillez envoyer un courriel à [email protected]. #ParlonsMNM

Webinar Reminder TOMORROW Feb 5, 3:00pm EST http://bit.ly/COVIDVaccines2021 Muscular Dystrophy Canada (MDC) and the Neuromuscular Disease Network for Canada (NMD4C) are pleased to invite you to a session on COVID-19 vaccine-related issues for people affected by neuromuscular conditions. Responses to questions will be provided by experts in the field:... Dr. Hans Katzberg, adult neuromuscular specialist and NMD researcher Dr. Hanns Lochmüller, pediatric neuromuscular specialist and NMD researcher Dr. Reshma Amin, respirologist and NMD researcher Dr. Megan Bettle, Director of the COVID-19 Regulatory Response Team at Health Canada / Government of Canada Dr. Allison McGeer, Infectious Disease Specialist and COVID-19 researcher Dr. Anne Pham-Huy, Infectious Disease Specialist and Chair of Immunize Canada This session is primarily targeted at Canadians personally affected by neuromuscular conditions and family members. However, clinicians, academics, trainees with an interest in neuromuscular disease and industry partners are welcomed. If you have any questions, please email [email protected]. The session will be simultaneously available in French. Muscular Dystrophy Canada #LetsTalkNMD #NMD #neuromuscular