Insights From the Transition to Competency-Based Medical Education in Neurology Programs.

Canadian neurology residency programs recently transitioned to Competency-Based Medical Education (CBME). Iterative evaluation is required to optimize CBME implementation. This study aimed to examine the variability and challenges in uptake of CBME in neurology residency programs and identify its benefits and pitfalls.

Getting airtime: Exploring how patients shape the stories they tell health practitioners.

Introduction: Effective communication during health encounters is known to decrease patient complaints, increase patient adherence and optimise health outcomes. While the aim of patient-centred care is to find common ground, health practitioners tend to drive the encounter, often interrupting patients within the first minute of the clinical conversation. Optimal care for people with chronic illnesses requires individuals to interact with health practitioners regarding their health concerns, but given these constraints, we know little about how patients strategise conversations with their care providers.

Using Electronic Health Record Data to Assess Residents' Clinical Performance in the Workplace: The Good, the Bad, and the Unthinkable.

Purpose: Novel approaches are required to meet assessment demands and cultivate authentic feedback in competency-based medical education. One potential source of data to help meet these demands is the electronic health record (EHR). However, the literature offers limited guidance regarding how EHR data could be used to support workplace teaching and learning.

Evolving Motivations: Patients' and Caregivers' Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington's Disease Care.

Patient-centered care provision is challenging under ideal circumstances; myotonic dystrophy (DM1) and Huntington's disease (HD) are examples of chronic, progressive health conditions that may challenge its limits. If we can understand how care unfolds in these conditions, health care providers may be better equipped to address patients' needs. Constructivist grounded theory informed data collection and analysis.

Survey of Canadian Myotonic Dystrophy Patients' Access to Computer Technology.

Background: Myotonic dystrophy type 1 is an autosomal dominant condition affecting distal hand strength, energy, and cognition. Increasingly, patients and families are seeking information online. An online neuromuscular patient portal under development can help patients access resources and interact with each other regardless of location.

Approach to the Patient With HyperCKemia.

Purpose Of Review: Neurologists commonly receive consultation requests regarding the evaluation of patients with an elevated serum creatine kinase (CK), a condition known as hyperCKemia. This article outlines an approach to the history and examination of patients with hyperCKemia in order to narrow the localization and differential of an elevated CK and guide possible next steps. This article aims to help clinicians identify treatable or reversible etiologies as well as those that will change management.

Myotonic Dystrophy and Huntington's Disease Care: "We Like to Think We're Making a Difference".

Background: Patient-centered care for individuals with myotonic dystrophy (DM1) and Huntington's disease (HD)-chronic, progressive, and life-limiting neurological conditions-may be challenged by patients' cognitive and behavioral impairments. However, no research has explored health care providers' (HCPs') perspectives about patient-centered care provision for these patients along their disease trajectory.

Methods: Constructivist grounded theory informed the iterative data collection and analysis process.

Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.

Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without cardiomyopathy. The objective of our review was to systematically evaluate the quality of evidence from the literature to formulate evidence-based guidelines for the diagnosis and management of patients with Pompe disease.

Hard to Swallow: A Phenomenological Exploration of the Experience of Caring for Individuals With Myotonic Dystrophy and Dysphagia.

Purpose: Myotonic dystrophy (DM1), a genetic, multisystemic disorder, is the most prevalent adult form of muscular dystrophy. Dysphagia is a common symptom that may be difficult to diagnose and treat and can be associated with increased morbidity and mortality. Preexisting cognitive impairment or apathy, both well described in the DM1 literature, may contribute to management challenges.

Picturing the Experience of Living With Myotonic Dystrophy (DM1): A Qualitative Exploration Using Photovoice.

Background: Myotonic dystrophy presents with multisystemic complications, and there is a well-recognized myotonic dystrophy personality profile that is characterized by executive dysfunction, an avoidant personality, and impaired cognition. Understanding symptom impact on patients' lives is crucial for providing appropriate patient-centered care; however, much of the myotonic dystrophy literature reflects the biomedical model, and there is a paucity of articles exploring patient experience.

Objective: The aim of this study was to use a novel research approach to explore the experiences of patients with myotonic dystrophy.

Truths and misinformation: a qualitative exploration of myotonic dystrophy.

Background: Myotonic dystrophy (DM1) is an autosomal dominant, progressive, and multisystem condition that impacts affected individuals physically, socially, and emotionally. Understanding individuals' perceptions of their disease is critical to ensuring appropriate information, education, and counseling.

Methods: We conducted a content analysis of findings from a larger study that used a novel, qualitative research approach called photovoice to explore nine patients' experiences of living with DM1.

Intravenous immunoglobulin response in treatment-naïve chronic inflammatory demyelinating polyradiculoneuropathy.

Objective: There is no consensus on which treatment should be used preferentially in individual patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Patients unlikely to respond to intravenous immunoglobulin (IVIg) could be prescribed corticosteroids first to avoid high cost and a delayed treatment response. We investigated which factors determined a response to IVIg.

Exploring frontline faculty perspectives after a curriculum change.

Context: Curriculum renewal is an essential and continual process for undergraduate medical education programmes. Although there is substantial literature on the critical role of leadership in successful curricular change, the voices of frontline faculty teachers implementing such change have not been explored. We aimed not only to examine and understand the perceptions of faculty members as they face curriculum change, but also to explore the influences on their engagement with change.

The CNDR: collaborating to translate new therapies for Canadians.

Background: Patient registries represent an important method of organizing "real world" patient information for clinical and research purposes. Registries can facilitate clinical trial planning and recruitment and are particularly useful in this regard for uncommon and rare diseases. Neuromuscular diseases (NMDs) are individually rare but in aggregate have a significant prevalence.

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial.

Context: Nondystrophic myotonias (NDMs) are rare diseases caused by mutations in skeletal muscle ion channels. Patients experience delayed muscle relaxation causing functionally limiting stiffness and pain. Mexiletine-induced sodium channel blockade reduced myotonia in small studies; however, as is common in rare diseases, larger studies of safety and efficacy have not previously been considered feasible.

A quantitative measure of handgrip myotonia in non-dystrophic myotonia.

Introduction: Non-dystrophic myotonia (NDM) is characterized by myotonia without muscle wasting. A standardized quantitative myotonia assessment (QMA) is important for clinical trials.

Methods: Myotonia was assessed in 91 individuals enrolled in a natural history study using a commercially available computerized handgrip myometer and automated software.

Decomposition-based quantitative electromyography in the evaluation of muscular dystrophy severity.

Introduction: Electromyography is useful in the diagnosis of myopathies, but its utility in determining disease severity requires further investigation. In this study we aimed to determine whether decomposition-based quantitative electromyography (DQEMG) could indicate the severity of involvement in a cohort of patients with muscular dystrophies (MDs).

Methods: Fifteen patients with facioscapulohumeral (FSHD), limb-girdle (LGMD), and Becker (BMD) muscular dystrophy, and 7 healthy controls, participated in this investigation.

Myotonic dystrophy (DM1) and dysphagia: the need for dysphagia management guidelines and an assessment tool.

Myotonic dystrophy (DM1) is the most prevalent muscular dystrophy occurring in adulthood. DM1 is a multi-systemic disorder resulting in early-onset cataracts, cardiac rhythm problems, muscle weakness, ptosis, and cognitive and psychiatric manifestations. Dysphagia is one of the most problematic symptoms of DM1 because it may cause weight loss, aspiration pneumonias or sudden death.

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.

This case report describes a young boy with concomitant genetically-confirmed Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy with a novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb. This child presented with a more severe phenotype than expected for either individual disease process and underscores the role for thorough diagnostic investigation in identifying atypical clinical presentations.

Challenges in the design and conduct of therapeutic trials in channel disorders.

Neurologic channelopathies are rare, inherited paroxysmal disorders of muscle (e.g., the periodic paralyses and nondystrophic myotonias) and brain (e.