Cargando…

A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis

McArdle disease is a rare condition, characterized by a deficiency of phosphorylase muscle isoform, an enzyme responsible for the breaking down of glycogen, necessary for obtaining energy. Patients typically present with exercise intolerance, myalgias, fatigue, cramps, muscle stiffness, and/or weakn...

Descripción completa

Detalles Bibliográficos
Autores principales:	Teles, João S, Ramos, Catarina T, Almeida, Beatriz M, Sousa, Anabela V
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Family/General Practice
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552332/ https://www.ncbi.nlm.nih.gov/pubmed/37809236 http://dx.doi.org/10.7759/cureus.44701

Ejemplares similares

McArdle Disease Misdiagnosed as Meningitis
por: Scalco, Renata Siciliani, et al.
Publicado: (2016)

McArdle Disease and Exercise Physiology
por: Kitaoka, Yu
Publicado: (2014)

McArdle disease: a case report and review
por: Leite, Alberto, et al.
Publicado: (2012)

No effect of triheptanoin on exercise performance in McArdle disease
por: Madsen, Karen L., et al.
Publicado: (2019)

The Second Wind in McArdle Patients: Fitness Matters
por: Salazar-Martínez, Eduardo, et al.
Publicado: (2021)

Determining the prevalence of McArdle disease from gene frequency by analysis of next generation sequencing data: McArdle prevalence by NGS data
por: De Castro, Mauricio, et al.
Publicado: (2015)

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)
por: Mahroo, Omar A., et al.
Publicado: (2019)

Resistance Exercise Training in McArdle Disease: Myth or Reality?
por: Pietrusz, Aleksandra, et al.
Publicado: (2018)

Statin-Induced Necrotizing Autoimmune Myositis: Diagnosis and Management
por: Cha, David, et al.
Publicado: (2021)

Higher oxidative stress in skeletal muscle of McArdle disease patients
por: Kaczor, Jan J., et al.
Publicado: (2017)

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms
por: Llavero, Francisco, et al.
Publicado: (2019)

Molecular diagnosis of McArdle disease using whole-exome sequencing
por: Kang, Ju-Hyung, et al.
Publicado: (2021)

ODP208 Hypoglycemia as a Presenting Feature of McArdle's Disease
por: Zare, Ahmad, et al.
Publicado: (2022)

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease
por: Nogales-Gadea, Gisela, et al.
Publicado: (2012)

Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease
por: Spyropoulos, George, et al.
Publicado: (2014)

A multi-parametric protocol to study exercise intolerance in McArdle's disease
por: Ricci, Giulia, et al.
Publicado: (2015)

Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease
por: Rodríguez-Gómez, Irene, et al.
Publicado: (2020)

McArdle disease in a patient with anorexia nervosa: a case report
por: Dalle Grave, Riccardo, et al.
Publicado: (2022)

PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features
por: Carvalho, Alzira A. S., et al.
Publicado: (2020)

McArdle disease does not affect skeletal muscle fibre type profiles in humans
por: Kohn, Tertius Abraham, et al.
Publicado: (2014)

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients
por: Joshi, Pushpa Raj, et al.
Publicado: (2020)

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
por: Villarreal-Salazar, Mónica, et al.
Publicado: (2021)

Neuromotor control associates with muscle weakness observed with McArdle sign of multiple sclerosis
por: Schilaty, Nathan D., et al.
Publicado: (2022)

McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes
por: Nash, Christopher M, et al.
Publicado: (2021)

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease
por: Thomas-Wilson, Amanda, et al.
Publicado: (2022)

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
por: Villarreal-Salazar, M., et al.
Publicado: (2022)

Severe Liver Injury Secondary to COVID-19-Induced Rhabdomyolysis in McArdle Disease
por: Urena Neme, Ana P, et al.
Publicado: (2023)

Personalized Treatment of Periodontitis in a Patient with McArdle's Disease: The Benefits from Probiotics
por: Cannizzaro, Salvatore, et al.
Publicado: (2023)

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
por: Adams, Louisa, et al.
Publicado: (2023)

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
por: Scalco, Renata S., et al.
Publicado: (2020)

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
por: Santalla, Alfredo, et al.
Publicado: (2017)

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
por: García-Consuegra, Inés, et al.
Publicado: (2022)

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
por: Ortuño-Costela, María del Carmen, et al.
Publicado: (2022)

Anesthetic Management of a Patient With McArdle Disease: A Case Report and Review of the Literature
por: Kotha, Rohini, et al.
Publicado: (2023)

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
por: Karazi, Walaa, et al.
Publicado: (2023)

Acute Kidney Injury Requiring Dialysis in McArdle Disease: A Case Report of a Rarely Seen Presentation
por: Veiga, Hugo, et al.
Publicado: (2022)

Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits
por: Santalla, Alfredo, et al.
Publicado: (2014)

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
por: Real-Martinez, Alberto, et al.
Publicado: (2019)

An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoinsulinemia?
por: Chocair, Pedro Renato, et al.
Publicado: (2020)

Absence of p.R50X Pygm read-through in McArdle disease cellular models
por: Tarrasó, Guillermo, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_48ohant53hk90pv6nhmjgfbp1s