The Neuromuscular Disease Network for Canada


Latest edition of the Journal of Neuromuscular Diseases now online – Sep 2020

A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below:

Journal of Neuromuscular Diseases: Volume 7, issue 4

*NMD4C lead investigator Hanns Lochmüller is joint editor-in-chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National Institute of Neurological Disorders and Stroke.


Articles in this issue:

  • Towards central nervous system involvement in adults with hereditary myopathies
  • Induction of skeletal muscle progenitors and stem cells from human induced pluripotent stem cells
  • Lower extremity muscle involvement in the intermediate and Bethlem myopathy forms of COL6-related dystrophy and Duchenne muscular dystrophy: A cross-sectional study
  • Ganglionopathies associated with MERRF syndrome: An original report
  • Respiratory dysfunction in Becker muscular dystrophy patients: A case series and autopsy report
  • Decision-making and selection bias in four observational studies on Duchenne and Becker muscular dystrophy
  • Phenotypic spectrum of myopathies with recessive anoctamin-5 mutations
  • Natural history of type 1 spinal muscular atrophy in a series of Argentinian children
  • Neuroanatomical models of muscle strength and relationship to ambulatory function in spinal muscular atrophy
  • Facilitators and barriers to wearing hand orthoses by adults with Duchenne muscular dystrophy: A mixed methods study design
  • Identification and characterization of splicing defects by single-molecule real-time sequencing technology (PacBio)
  • Swallowing, chewing, and speaking: Frequently impaired in oculopharyngeal muscular dystrophy
  • Correlation between quantitative MRI and muscle histopathology in muscle biopsies from healthy controls and patients with IBM, FSHD, and OPMD
  • A new point mutation in the PMP22 gene in a family suffering from atypical HNPP
  • Severe inflammatory myopathy in a pulmonary carcinoma patient treated with Pembrolizumab: An alert for myologists
  • Familial oculo-leptomeningeal transthyretin amyloidosis caused by Leu55Arg mutation
  • Taking a Strohl through history: Putting Strohl back in Guillain-Barré-Strohl syndrome
  • Measuring outcomes in adults with spinal muscular atrophy: Challenges and future directions – Meeting report

Read next...


October 2020 newsletter

The October 2020 issue of the NMD4C newsletter is now available!

Topics include a 10-year reflection of the Canadian Neuromuscular Disease Registry, our process for selecting clinical guidelines to adapt, our booth at the Myotonic Dystrophy Foundation virtual conference, recent and upcoming webinars, new research from NMD4C participants, and a member spotlight on steering committee member Stacey Lintern.

About us

We’re hiring a communications coordinator!

We are looking for a full-time communications coordinator for a term position ending March 2022. This position is located at the NMD4C coordination office at the CHEO Research Institute in Ottawa, Ontario, but will be working from home until at least June 2021.


NMD4C investigator Bernard Brais to be awarded The Norman Saunders Jacob’s Ladder International Research Prize

We are very proud of our investigator Dr. Bernard Brais for receiving the 2020 Norman Saunders Jacob’s Ladder International Research Prize! Dr. Brais will be giving a talk at his award presentation on October 7, 2020, entitled “Ataxias with regional founder effects in Québec: Lessons on diversity.” 


CME-accredited webinar | Interdisciplinary guidelines for myotonic dystrophy type 1 (DM1) management across the spectrum

NMD4C and MDC are pleased to invite you to a CME-accredited webinar on interdisciplinary guidelines for myotonic dystrophy type 1 (DM1).


NMD4C steering committee member Stacey Lintern appointed CEO of Muscular Dystrophy Canada

We are happy to congratulate our steering committee member Stacey Lintern for her recent appointment as CEO of our partner organization Muscular Dystrophy Canada (MDC)!

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World Muscle Society “25 Challenge” to support Muscular Dystrophy Canada

Many neuromuscular specialists and members of multidisciplinary neuromuscular teams in Canada are part of the World Muscle Society (WMS). Because people living with neuromuscular conditions have been hit particularly hard by the COVID-19 pandemic, WMS has asked all WMS2020 Congress attendees to get involved by taking on their very own WMS25 Challenge to raise money and awareness for relevant charities across the world. Muscular Dystrophy Canada (MDC), a funder and partner of NMD4C, has been selected as the neuromuscular organization of choice for Canada.