Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

M Korb, A Peck, LN Alfano, KI Berger… - Orphanet journal of rare …, 2022 - Springer
Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare
inherited disorder that may result in multisystem involvement of varying phenotypes …

Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice

I Fisette-Paulhus, C Gagnon, L Girard-Côté… - Neuromuscular …, 2022 - Elsevier
Abstract Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease affecting
both smooth and striated muscles. It has been suggested that this multisystemic disease …

[HTML][HTML] Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1

M Mahdavi, K Prévost, P Balthazar, IFP Hus… - Computational and …, 2024 - Elsevier
Abstract Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant genetic disorder.
Although DM1 is primarily characterized by progressive muscular weakness, it exhibits …

Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series

T Watson-Fargie, D Raeside, S Davidson… - Neuromuscular …, 2022 - Elsevier
Gastrointestinal dysfunction in neuromuscular disease is associated with significant
morbidity and mortality. It is often underreported despite its prevalence in this cohort. There …

[HTML][HTML] Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation

JPS Marín, PS Bailo, RL Alonso, JLC Liesa… - Neurología (English …, 2023 - Elsevier
Introduction The incidence of myotonic dystrophy type 1 (DM1), a disease with great
phenotypic variety, in our region is unknown. This study aims to estimate the incidence of …

Prevalence of urinary incontinence and other pelvic floor disorders in women with myotonic dystrophy type 1

I Fisette-Paulhus, C Gagnon, M Morin - Neuromuscular Disorders, 2023 - Elsevier
Abstract Myotonic dystrophy type 1 (DM1) is a neuromuscular disease that can affect the
pelvic floor muscles but few studies have investigated pelvic floor disorders, including …

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

K Raymond, M Levasseur, B Gallais… - Disability and …, 2022 - Taylor & Francis
Purpose For slowly progressive neuromuscular disease, prognostic approach and long-term
monitoring of participation is a crucial part of rehabilitation services. To improve the …

Clinical and molecular insights into gastrointestinal dysfunction in myotonic dystrophy types 1 & 2

JAM Peterson, TA Cooper - International journal of molecular sciences, 2022 - mdpi.com
Myotonic dystrophy (DM) is a highly variable, multisystemic disorder that clinically affects
one in 8000 individuals. While research has predominantly focused on the symptoms and …

[HTML][HTML] Distrofia miotónica tipo 1: 13 años de experiencia en un hospital terciario. Estudio clínico y epidemiológico. Correlación genotipo-fenotipo

JPS Marín, PS Bailo, RL Alonso, JLC Liesa, JG Abio… - Neurología, 2023 - Elsevier
Introducción Se desconoce la incidencia de la distrofia miotónica tipo 1 (DM1), enfermedad
con gran variedad fenotípica, en nuestra región. El objetivo de nuestro trabajo es estimar la …

Myotonic Dystrophies

G Silvestri, A Modoni - Principles and Practice of the Muscular Dystrophies, 2024 - Springer
Myotonic dystrophies (DM) are the most common muscular dystrophies in adults. They
include myotonic dystrophy type 1 (DM1) or Steinert's disease, and myotonic dystrophy type …