March 2022 Newsletter

The March 2022 issue of the NMD4C newsletter is now available! Read about the new Congenital myasthenic syndrome registry from the CNDR, a roundup of the neuromuscular campaigns from Rare Disease Day 2022, and an exciting update from MDC on newborn screening! Plus job opportunities, events, new research, member spotlights and more!

New Research from NMD4C Participants

Cross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population

  • Claudia Côté with Dr. Bernard Brais (NMD4C) and Dr. Cynthia Gagnon (NMD4C) as co-authors.


Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

  • Dr. Annabelle Arlt with Dr. Hanns Lochmüller (NMD4C) as a co-author.


The Transitions to Long-term In Home Ventilator Engagement Study (Transitions to LIVE): study protocol for a pragmatic randomized controlled trial

  • Dr. Reshma Amin (NMD4C)


Validation of an Adapted Version of the Glasgow Anxiety Scale for People with Intellectual Disabilities (GAS-ID)

  • Dr. Christophe Maïano, with Dr. Cynthia Gagnon (NMD4C) as a co-author.


Multifocal acquired demyelinating sensory and motor neuropathy presenting with a unilateral radial neuropathy

  • Dr. Jocelyn Zwicker, with Dr. Jodi Warman-Chardon (steering committee) as a co-author.


NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

  • Dr. Matthew Jennings, with Dr. Hanns Lochmüller (NMD4C) as a co-author.


Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia

  • Dr. Tatiana Maroilley, with Dr. Gerald Pfeffer (NMD4C) as a co-author.


Validating Automatic Diadochokinesis Analysis Methods Across Dysarthria Severity and Syllable Task in Amyotrophic Lateral Sclerosis

  • Dr. Chelsea Tanchip, with Dr. Lawrence Korngut (NMD4C) as a co-author.


The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

  • Dr. Steve Laurie, with Dr. Hanns Lochmüller (NMD4C) as a co-author.


CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy-anti-Cas9 immune response casts its shadow over safety and efficacy

  • Dr. James Dowling (NMD4C)


Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1

  • Dr. Nicolas Bélair with Dr. Cynthia Gagnon (NMD4C) and Dr. Élise Duchesne (NMD4C) as co-authors.


Enhancing human aspects of care with young people with muscular dystrophy: An evaluation of a participatory qualitative study with clinicians

  • Dr. Jenny Setchell, with Dr. Hugh McMillan (NMD4C) as a co-author.


Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care

  • Dr. Deepak Menon, with Dr. Hernan Gonorazky (NMD4C) and Dr. James Dowling (NMD4C) as co-authors.


A Case Report of Systemic Intoxication Following Onabotulinum Toxin A Injections Into the Salivary Glands in a Patient With Spinal Muscular Atrophy Type 1

  • Dr. Dong Hyun Kim, with Dr. Maryam Oskoui (NMD4C) as a co-author.


Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder

  • Dr. Christoph Kanzler, with Dr. Bernard Brais (NMD4C) and Dr. Cynthia Gagnon (NMD4C) as co-authors.

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