Cargando…

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review

BACKGROUND: Congenital myopathies are rare neuromuscular disorders presenting with a wide spectrum of clinical features, including long bone fractures (LBFs) that negatively influence functional prognosis, quality of life and survival. Systematic research on bone quality in these patients is lacking...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bouman, Karlijn, Dittrich, Anne T.M., Groothuis, Jan T., van Engelen, Baziel G.M., Janssen, Mirian C.H., Voermans, Nicol C., Draaisma, Jos M.T., Erasmus, Corrie E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881028/ https://www.ncbi.nlm.nih.gov/pubmed/36314217 http://dx.doi.org/10.3233/JND-221543

Ejemplares similares

SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness
por: Bouman, Karlijn, et al.
Publicado: (2023)

LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study
por: Bouman, Karlijn, et al.
Publicado: (2023)

Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review
por: Middelink, Marloes, et al.
Publicado: (2023)

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
por: Bouman, Karlijn, et al.
Publicado: (2021)

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands
por: Reumers, Stacha F. I., et al.
Publicado: (2021)

Inspiratory Muscle Training in Nemaline Myopathy
por: van Kleef, Esmee S.B., et al.
Publicado: (2023)

The socioeconomic burden of facioscapulohumeral muscular dystrophy
por: Blokhuis, Anna M., et al.
Publicado: (2021)

Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up
por: Dijkstra, Jildou N., et al.
Publicado: (2021)

MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders
por: Lassche, Saskia, et al.
Publicado: (2018)

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
por: Bachmann, Christoph, et al.
Publicado: (2022)

Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD
por: Lassche, Saskia, et al.
Publicado: (2020)

Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy
por: Teeselink, Sjan, et al.
Publicado: (2022)

Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome
por: Vincenten, Sanne C.C., et al.
Publicado: (2023)

Cerebral Adaptation Associated with Peripheral Nerve Recovery in Neuralgic Amyotrophy: A Randomized Controlled Trial
por: Lustenhouwer, Renee, et al.
Publicado: (2022)

Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy
por: Lassche, Saskia, et al.
Publicado: (2020)

Reproducibility and robustness of motor cortical stimulation to assess muscle relaxation kinetics
por: Molenaar, Joery P., et al.
Publicado: (2022)

Effectiveness and cost-effectiveness of a self-management group program to improve social participation in patients with neuromuscular disease and chronic fatigue: protocol of the Energetic study
por: Veenhuizen, Yvonne, et al.
Publicado: (2015)

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol
por: Lassche, Saskia, et al.
Publicado: (2013)

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
por: Mul, Karlien, et al.
Publicado: (2018)

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
por: Scalco, Renata S, et al.
Publicado: (2016)

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
por: Goselink, Rianne J.M., et al.
Publicado: (2018)

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders
por: Draaisma, Fieke, et al.
Publicado: (2023)

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy
por: Tankink, Maurits, et al.
Publicado: (2022)

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)
por: Goselink, Rianne J. M., et al.
Publicado: (2016)

Mixed methods evaluation of a self-management group programme for patients with neuromuscular disease and chronic fatigue
por: Veenhuizen, Yvonne, et al.
Publicado: (2021)

Making sense of missense variants in TTN-related congenital myopathies
por: Rees, Martin, et al.
Publicado: (2021)

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature
por: de Laat, Paul, et al.
Publicado: (2019)

Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial
por: Voet, Nicoline BM, et al.
Publicado: (2010)

Suspected Congenital Centronuclear Myopathy in an Arabian‐cross Foal
por: Polle, F., et al.
Publicado: (2014)

Systemic cell therapy for muscular dystrophies: The ultimate transplantable muscle progenitor cell and current challenges for clinical efficacy
por: Ausems, C. Rosanne M., et al.
Publicado: (2020)

Reachable workspace analysis is a potential measurement for impairment of the upper extremity in neuralgic amyotrophy
por: IJspeert, Jos, et al.
Publicado: (2022)

Ophthalmological findings in facioscapulohumeral dystrophy
por: Goselink, Rianne J M, et al.
Publicado: (2019)

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
por: Kramer, J.J., et al.
Publicado: (2023)

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)
por: Mul, Karlien, et al.
Publicado: (2021)

Semi‐automated Rasch analysis using in‐plus‐out‐of‐questionnaire log likelihood
por: Wijayanto, Feri, et al.
Publicado: (2020)

Care for capabilities: Implementing the capability approach in rehabilitation of patients with neuromuscular diseases. Study protocol of the controlled before-after ReCap-NMD study
por: Bloemen, Bart, et al.
Publicado: (2021)

Quantification of gait in mitochondrial m.3243A > G patients: a validation study
por: Ramakers, Rob, et al.
Publicado: (2017)

Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial
por: Seesing, Femke M, et al.
Publicado: (2011)

Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial
por: van Engelen, Baziel
Publicado: (2015)

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers
por: van den Heuvel, Anita, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_8utdbkvkui6ag7gd1tstmp80ja