Abstract Details

Title Camptocormia in a Patient with Valosin-Containing Protein (VCP) Mutation

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P01 - (-)

Poster/Presentation
Number 117

Objective

Background BACKGROUND: Inclusion body myopathy associated with Paget's disease of the bone (PBD) and frontotemporal dementia, or IBMPFD, is a multisystem degenerative disorder due to mutations in the VCP gene. Penetrance of the disease features is variable. Various patterns of muscle involvement have been described. Camptocormia may be attributed to central or peripheral nervous system disorders. To our knowledge, camptocormia has not been reported in IBMPFD.

Design/Methods DESIGN/METHODS: Retrospective review of medical records, muscle biopsy, and genetic analysis.

Results RESULTS: A 39 year old man presented with five years of progressive lower extremity weakness and need of walking bent over. For 2 years he had difficulties raising arms above his shoulders. There was a history of ALS in his mother, and myopathy in maternal grandmother, mother's uncle, and mother's sister. Clinical evaluation was significant for obesity, bifacial weakness, bilateral scapular winging and camptocormia. On strength examination, elbow and hip flexors were (R/L) 4-/4-; knee extensors, 4/5-; knee flexors, 4/4; elsewhere strength was 5/5. EMG showed fibrillations in upper and lower extremities proximal and distal muscles, myotonic discharges in the cervical paraspinal, biceps, and medial gastrocnemius muscles, and myopathic motor units more in proximal versus distal muscles. Biopsy of the quadriceps showed a severe myopathy with rimmed vacuoles and intranuclear and cytoplasmic IBM-type tubulofilamentous inclusions. CK varied from 1700 to 2,000 U/L (normal 49-397). PFT showed restrictive pattern. Plain thoracolumbar films showed minimal degenerative changes. Alkaline phosphatase was normal. FSHD genetic test was negative. Sequencing of the VCP gene revealed disease-causing heterozygous mutations: Exon 5, c.572G>A, resulting in p.Arg191Gln.

Conclusions CONCLUSIONS: Notable clinical features in this patient included scapulohumeral and proximal lower extremity weakness and camptocormia. At this time, FTD or PBD are not present.

Authors/Disclosures
J. Americo M. Fernandes, Jr., MD, FAAN (University of Nebraska Medical Center) PRESENTER	Dr. Fernandes has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Columbia University. The institution of Dr. Fernandes has received research support from MGH philanthropy (Clene, Seelos, UCB, Biohaven, Prilenia, Denali Therapeutics, Calico Life Sciences. The institution of Dr. Fernandes has received research support from Columbia University. The institution of Dr. Fernandes has received research support from PTC Therapeutics. The institution of Dr. Fernandes has received research support from Clene.
Bjorn E. Oskarsson, MD, FAAN (Mayo Clinic)	Dr. Oskarsson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. The institution of Dr. Oskarsson has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Dr. Oskarsson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AnnJi. The institution of Dr. Oskarsson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mitsubishi. Dr. Oskarsson has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Tsumura. The institution of Dr. Oskarsson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MediciNova. The institution of Dr. Oskarsson has received research support from Biogen. The institution of Dr. Oskarsson has received research support from Medicinova. The institution of Dr. Oskarsson has received research support from Cytokinetics. The institution of Dr. Oskarsson has received research support from Calico. The institution of Dr. Oskarsson has received research support from Mitsubishi. The institution of Dr. Oskarsson has received research support from Tsumura. The institution of Dr. Oskarsson has received research support from Sanofi. The institution of Dr. Oskarsson has received research support from AZTherapeutics. The institution of Dr. Oskarsson has received research support from Orion. The institution of Dr. Oskarsson has received research support from Esaii.
Pariwat Thaisetthawatkul, MD, FAAN (University of Nebraska Medical Center)	Dr. Thaisetthawatkul has nothing to disclose.
	No disclosure on file
	No disclosure on file

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