AI Article Synopsis
- IBMPFD is a rare genetic disorder caused by mutations in the valosin-containing protein gene, leading to symptoms like muscle weakness and neurological issues.
- A case study highlights a man whose initial symptom was an unusual type of neuropathy, with a definitive diagnosis emerging 8 years later when he developed frontotemporal dementia.
- This condition can present as peripheral neuropathy, making it important to consider IBMPFD in patients showing signs of dementia or Paget's disease.
Article Abstract
Background: Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein.
Case Report: We report the case of a man carrying the previously described p.Arg159His mutation, who had an unusual axonal sensorimotor neuropathy as the first clinical manifestation of IBMPFD, and for whom diagnosis only became clear 8 years later when the patient developed frontotemporal dementia.
Conclusions: Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiagnosed disorder should be considered when a patient develops dementia or has signs of Paget's disease.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4017021 | PMC |
| http://dx.doi.org/10.3988/jcn.2014.10.2.166 | DOI Listing |
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