Multisystem proteinopathy: phenotypes
Evidence-based neurology checklist on multisystem proteinopathy: phenotypes: Classical triad (IBMPFD) Inclusion body myopathy (IBM): this is present in about 90% of cases Paget’s disease of bone (PDB): this is present in about 40% of cases Frontotemporal dementia (FTD): this is present in about…
Classical triad (IBMPFD)
- Inclusion body myopathy (IBM): this is present in about 90% of cases
- Paget’s disease of bone (PDB): this is present in about 40% of cases
- Frontotemporal dementia (FTD): this is present in about 30% of cases
Inclusion body myopathy (IBM) pehontypes
Myopathy phenotypes
Amyotrophic lateral sclerosis (ALS) phenotype
Respiratory dysfunction phenotypes
Other phenotypes
Synonym
References
- Guo X, Zhao Z, Shen H, Qi B, Li N, Hu J. VCP myopathy: a family with unusual clinical manifestations. Muscle Nerve 2019; 59:365-369.
- 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.
- Abrahao A, Abath Neto O, Kok F, et al. One family, one gene and three phenotypes: a novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia. J Neurol Sci 2016; 368:352-358.
- 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.
- 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.
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