Multisystem proteinopathy: phenotypes

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Multisystem proteinopathy: phenotypes. Inclusion body myopathy (IBM): this is present in about 90% of cases. Fully referenced neurology checklist.

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

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Myopathy phenotypes

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Amyotrophic lateral sclerosis (ALS) phenotype

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Respiratory dysfunction phenotypes

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Other phenotypes

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Synonym

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References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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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