Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Bhaskar RoyAllison PeckTeresinha EvangelistaGerald PfefferLeo WangJordi Diaz-ManeraManisha KorbMatthew P WicklundMargherita MiloneMiriam FreimerHani KushlafRocio-Nur Villar-QuilesTanya StojkovicMerrilee NeedhamJohanna PalmioThomas P LloydBenison KeungTahseen MozaffarConrad Chris WeihlVirginia KimonisPublished in: Annals of clinical and translational neurology (2023)
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.
Keyphrases
- muscular dystrophy
- late onset
- early onset
- magnetic resonance imaging
- quality improvement
- duchenne muscular dystrophy
- primary care
- systematic review
- randomized controlled trial
- genome wide
- dna methylation
- endoplasmic reticulum stress
- mitochondrial dna
- computed tomography
- gene expression
- small molecule
- locally advanced
- skeletal muscle
- rectal cancer
- radiation therapy
- body composition
- bone mineral density
- ultrasound guided