TY - JOUR
AR - CEI-2020-1-101
TI - A Natural History Study of VCP Associated Vacuolar Myopathy in a Patient with the Common R155H Mutation
AU - David , Sweetman
AU - Jake , Plewa
AU - Minh , Nguyen
AU - Virginia, Kimonis
JO - Clinical and Experimental Investigations
PY - 2020
DA - Fri 29, May 2020
SN - 2674-5054
DO - http://dx.doi.org/10.31487/j.CEI.2020.01.01
UR - https://www.sciencerepository.org/a-natural-history-study-of-vcp-associated-vacuolar-myopathy-in_CEI-2020-1-101 
KW - VCP, R155H, IBMPFD, vacuolar myopathy, natural history inclusion, body myopathy, DEXA, dynamometry, IBMFRS
AB - Background: IBMPFD (Inclusion Body Myopathy associated with Paget disease of the bone and
Frontotemporal Dementia) is an autosomal dominant inherited disease caused by VCP gene mutations. Very
little natural history data exists on this disease. We report a patient with a significant family history of
IBMPFD associated with the common R155H mutation in the VCP gene.
Objective: This study will address the lack of long-term data for muscle strength, and respiratory function
in IBMPFD. The hypothesis is that detailed analysis in a single patient will provide meaningful natural
history data in IBMPFD, a progressive neurodegenerative disease.
Method: Regression analysis was performed across multiple parameters related to myopathy including
dynamometry, MRC scale, IBM functional rating scale, pulmonary function studies and sleep quality.
Results: Measurements of this patient highlight progressive generalized weakness in proximal and distal
regions, decline in pulmonary function, and asymmetrical strength differences of the upper extremities.
Measurements over five years revealed an overall deterioration with a slope of -1.13 and R2 value of 0.77.
Conclusion: This unique data derived from long-term evaluations in a patient provides the first report of
the rate of progression of muscle weakness and pulmonary function deterioration in VCP associated
inclusion body myopathy.