A primigravida with very‐long‐chain acyl‐CoA dehydrogenase deficiency |
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| Authors: | Ken‐ya Murata MD PhD Hideo Sugie MD PhD Ichizo Nishino MD PhD Tomoyoshi Kondo MD PhD Hidefumi Ito MD PhD |
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| Institution: | 1. Department of Neurology, Wakayama Medical University, , Wakayama, Japan;2. Department of Pediatrics, Jichi Medical University, , Tochigi, Japan;3. Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, , Tokyo, Japan |
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| Abstract: | Introduction: Valosin‐containing protein (VCP) is a ubiquitously expressed, multifunctional AAA‐ATPase protein. Its dominant mutations cause hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) or amyotrophic lateral sclerosis. The pattern of muscle weakness in IBMPFD patients is variable and includes limb‐girdle, scapuloperoneal, distal, or axial distributions. Case Report: We report a 63‐year‐old man with progressive scapuloperoneal weakness, head drop, and hyperCKemia since age 40 years. Electromyography showed myopathic changes and rare myotonic discharges. Muscle biopsy revealed numerous lobulated fibers, few fibers with glycogen accumulation, and rare fibers with polyglucosan bodies. Rimmed vacuoles and congophilic inclusions, often seen in IBMPFD, were absent. VCP sequencing identified a novel heterozygous c. 1160G>A mutation resulting in p.Asn387Ser substitution. Conclusions: Our patient broadens the pathological spectrum of VCP‐myopathy and emphasizes the importance of VCP analysis in patients with scapuloperoneal muscular dystrophy despite the absence of Paget disease, dementia, rimmed vacuoles, or intracellular amyloid deposition. Muscle Nerve 50:295–299, 2014 |
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| Keywords: | dropped head syndrome glycogen lobulated fiber polyglucosan body scapuloperoneal muscular dystrophy valosin‐containing protein VCP |
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