Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.

Mobility limitations, including a decrease in walking speed, are major issues for people with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Improving our understanding of factors influencing walking speed in ARSACS may inform the development of future interventions for gait rehabilitation and contribute to better clinical practices. The objective of the study was to identify the factors influencing the self-selected walking speed in adults with ARSACS.

Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1.

Muscle stem cells, the engine of muscle repair, are affected in myotonic dystrophy type 1 (DM1); however, the underlying molecular mechanism and the impact on the disease severity are still elusive. Here, we show using patients' samples that muscle stem cells/myoblasts exhibit signs of cellular senescence in vitro and in situ. Single cell RNAseq uncovers a subset of senescent myoblasts expressing high levels of genes related to the senescence-associated secretory phenotype (SASP).

Does Atmospheric Corrosion Alter the Sound Quality of the Bronze Used for Manufacturing Bells?

Bells are made of bronze, an alloy of copper and tin. Art objects and musical instruments belong to tangible and intangible heritage. The effect of atmospheric alteration on their sound is not well documented.

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clinical manifestations. However, few studies assessed their progression rate using a longitudinal design. This study aimed to document the natural history of ARSACS over a 4-year period in terms of upper and lower limb functions, balance, walking capacity, performance in daily living activities, and disease severity.

Evolution of Sleep Complaints in Myotonic Dystrophy Type 1: A 9-Year Longitudinal Study.

The objective was to characterize the progression of sleep complaints in 115 dystrophy type 1 (DM1) patients who filled out a sleep questionnaire twice at a 9-year interval. Daytime napping (22.1% vs.

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a progressive disorder where upper and lower extremities motor performances may bring participation restriction. To document participation in adults with ARSAC and explore associations with motor performances. Twenty-eight participants took part in the study.

Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1.

Introduction/aims: Myotonic dystrophy type 1 (DM1) is a neuromuscular disease affecting many systems and for which muscle weakness is one of the cardinal symptoms. People with DM1 also present with balance-related impairments and high fall risk. The aim of this study was to explore explanatory factors of dynamic balance impairment in the DM1 population.

French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.

Purpose: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is more prevalent in some founder populations, but relatively unexplored in Canada. This study aimed at investigating the French-Canadian patients through phenotypic and genotypic characterization.

Method: Phenotype and demographic characterization were done for 12 affected individuals belonging to eight unrelated families.

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.

Background: This study aimed to describe lower limbs impairments, balance and activity limitations related to indoor mobility in adult walkers with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Results: Twenty-five participants were recruited with a mean age of 32.2 (± 10.

Laser-induced injury of the skin: validation of a computer model to predict thresholds.

The exposure and emission limits of ICNIRP, IEC 60825-1 and ANSI Z136.1 to protect the skin are based on a limited number of studies. To broaden the database, a computer model was developed to predict injury thresholds in the wavelength range from 400 nm to 20 µm and was validated by comparison with all applicable experimental threshold data (ED) in the wavelength range from 488 nm to 10.

Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia.

To document the nutritional risk in adults with oculopharyngeal muscular dystrophy (OPMD) and its association with oropharyngeal dysphagia. In this cross-sectional study, 33 adults with molecular confirmation of OPMD between 50 and 75 years old were recruited from the registry of a university-affiliated neuromuscular clinic. Nutritional risk was assessed with the French version of Seniors in the Community: Risk Evaluation for Eating and Nutrition II (SCREEN II), whereas the severity of dysphagia was assessed using the French-Canadian version of the Sydney Swallow Questionnaire.

Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1.

Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type 1 (DM1) that can be amenable to treatment in the context of randomized controlled trials. No study has yet documented whether self-reported measures of daytime sleepiness and fatigue can detect change over time and the meaning of this change. The aim was to explore indicators of responsiveness to change and interpretability for the Daytime Sleepiness Scale and the Fatigue Severity Scale in 115 DM1 prospectively followed patients.

Laser-induced corneal injury: validation of a computer model to predict thresholds.

The exposure and emission limits of ICNIRP, IEC 60825-1 and ANSI Z136.1 to protect the cornea are based on a limited number of studies. To broaden the database, a computer model was developed to predict injury thresholds in the wavelength range from 1050 nm to 10.

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1.

Purpose: For slowly progressive neuromuscular disease, prognostic approach and long-term monitoring of participation is a crucial part of rehabilitation services. To improve the prognostic approach, professionals must identify individuals at risk of having higher participation restriction. This study aimed to identify personal and environmental predictors of participation restriction over nine years in adults with myotonic dystrophy type 1 (DM1).

Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Background: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia and is a candidate for outcome measurement in foreseeable clinical trials in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). Documenting its psychometric properties in this population will accelerate clinical trial readiness. The objectives of this study were to document the content and construct validity, the internal consistency, and to explore the 2-year responsiveness and the 4-year interpretability of the SARA in ARSACS.

Validity of the Mini-BESTest in adults with myotonic dystrophy type 1.

Introduction: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease that causes balance problems. The objective of this study was to assess the construct validity of the Mini-BESTest among adults with DM1.

Methods: Fifty-nine individuals with late-onset or adult phenotypes of DM1 were recruited.

A study of impairments in oculopharyngeal muscular dystrophy.

Introduction: In this study we aimed to document the prevalence and age of onset of motor impairments and other key symptoms in oculopharyngeal muscular dystrophy (OPMD).

Methods: Retrospective chart review of patients followed at the Saguenay Neuromuscular Clinic (Quebec, Canada).

Results: A total of 333 participants with the (GCN) mutation were included.

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.

Objective: Recessive null variants of the slow skeletal muscle troponin T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respiratory insufficiency. Muscle biopsy shows rods and fiber type disproportion. We report on 4 French Canadians with a novel form of recessive congenital TNNT1 core-rod myopathy.

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Background: Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the genes from a single clinical molecular diagnostic laboratory.

Methods: We reviewed electronic patient charts.

Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1.

Objective: Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type I (DM1) that exact a heavy toll on patients' quality of life, but information is scarce on their predictive factors. This study aimed to determine factors that may influence levels of daytime sleepiness and fatigue in a large cohort of DM1 patients followed for 9 years.

Methods: This study included 115 patients with DM1 at baseline (Time 1, T1) and at Time 2 (T2) who were questioned for daytime sleepiness, fatigue, history of depression, psychological distress, pain, hypothyroidism, and sleep habits.