Multisystem proteinopathy: investigations
Evidence-based neurology checklist on multisystem proteinopathy: investigations: Blood tests Creatinine kinase (CK): this is normal or mildly elevated Bone-specific alkaline phosphatase: this is elevated in PDB Pyridinoline Deoxypyridinoline Telopeptides of type I collagen Electromyogram (EMG):…
Blood tests
- Creatinine kinase (CK): this is normal or mildly elevated
- Bone-specific alkaline phosphatase: this is elevated in PDB
- Pyridinoline
- Deoxypyridinoline
- Telopeptides of type I collagen
Electromyogram (EMG): features
Muscle biopsy: features
Muscle MRI
Brain imaging
Pathology
Skeletal survey
Radionuclide bone scans
Genetic testing
Other tests
Synonym
Acronym
References
- Roy B, Peck A, Evangelista T, et al. Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy. Ann Clin Transl Neurol 2023; 10:686-695.
- Kimonis VE, Mehta SG, Fulchiero EC, et al. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A 2008; 146A:745-757.
- Korb M, Peck A, Alfano LN, et al. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet J Rare Dis 2022; 17:23.
- Farpour F, Tehranzadeh J, Donkervoort S, et al. Radiological features of Paget disease of bone associated with VCP myopathy. Skeletal Radiol 2012; 41:329-337.
- Kazamel M, Sorenson EJ, McEvoy KM, et al. Clinical spectrum of valosin containing protein (VCP)-opathy. Muscle Nerve 2016; 54:94-99.
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