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Journal article
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
Annals of clinical and translational neurology, Vol.10(5), pp.686-695
2023
PMID: 37026610
Abstract
Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP-associated MSP have myopathy, but there is no consensus-based guideline. The goal of this working group was to develop a best practice set of provisional recommendations for VCP myopathy which can be easily implemented across the globe. As an initiative by Cure VCP Disease Inc., a patient advocacy organization, an online survey was initially conducted to identify the practice gaps in VCP myopathy. All prior published literature on VCP myopathy was reviewed to better understand the different aspects of management of VCP myopathy, and several working group sessions were conducted involving international experts to develop this provisional recommendation. VCP myopathy has a heterogeneous clinical phenotype and should be considered in patients with limb-girdle muscular dystrophy phenotype, or any myopathy with an autosomal dominant pattern of inheritance. Genetic testing is the only definitive way to diagnose VCP myopathy, and single-variant testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases can be considered. Muscle biopsy is important in cases of diagnostic uncertainty or lack of a definitive pathogenic genetic variant since rimmed vacuoles (present in ~40% cases) are considered a hallmark of VCP myopathy. Electrodiagnostic studies and magnetic resonance imaging can also help rule out disease mimics. Standardized management of VCP myopathy will optimize patient care and help future research initiatives.
Details
- Title
- Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
- Authors/Creators
- Bhaskar Roy - Yale UniversityAllison Peck - Cure VCP Disease, Americus, Georgia, USATeresinha Evangelista - Institut de MyologieGerald Pfeffer - University of CalgaryLeo Wang - University of WashingtonJordi Diaz-Manera - John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UKManisha Korb - University of California, IrvineMatthew P Wicklund - University of Colorado DenverMargherita Milone - Mayo ClinicMiriam Freimer - The Ohio State UniversityHani Kushlaf - University of Cincinnati Medical CenterRocio-Nur Villar-Quiles - InsermTanya Stojkovic - InsermMerrilee Needham - Murdoch University, Centre for Molecular Medicine and Innovative TherapeuticsJohanna Palmio - Tampere University HospitalThomas E Lloyd - Johns Hopkins University School of MedicineBenison Keung - Yale UniversityTahseen Mozaffar - University of California, IrvineConrad Chris Weihl - Washington University in St. LouisVirginia Kimonis - University of California, Irvine
- Publication Details
- Annals of clinical and translational neurology, Vol.10(5), pp.686-695
- Publisher
- Wiley Periodicals LLC on behalf of American Neurological Association.
- Identifiers
- 991005581069007891
- Copyright
- © 2023 The Authors.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
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- Citation topics
- 1 Clinical & Life Sciences
- 1.25 Molecular & Cell Biology - Cancer, Autophagy & Apoptosis
- 1.25.782 Proteasome
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior