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VCP myopathy: A family with unusual clinical manifestations
Author(s) -
Guo Xuan,
Zhao Zhe,
Shen Hongrui,
Qi Bing,
Li Nan,
Hu Jing
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26389
Subject(s) - myopathy , medicine , ptosis , dysphagia , muscle biopsy , weakness , pathology , muscle weakness , proximal muscle weakness , external ophthalmoplegia , pathological , congenital myopathy , biopsy , anatomy , genetics , biology , surgery , gene , mitochondrial dna
Valosin‐containing protein (VCP) variants that affect muscle, bone, and the nervous system are termed multisystem proteinopathy. VCP myopathy is manifested as limb‐girdle weakness, distal weakness and scapuloperoneal weakness. Methods We reviewed clinical, genetic, and muscle biopsy data from 6 members of a family with VCP myopathy. Results Clinical features of family members were complex and included dementia, myopathy, and hearing impairment. Ophthalmoplegia, ptosis, and dysphagia were present in 3 siblings. Rimmed vacuoles were observed in muscle biopsies, consistent with the pathological changes of VCP myopathy. A heterozygous VCP c.463C>A (p.R155S) that segregated in an autosomal‐dominant pattern was identified by genetic analysis. Conclusions VCP myopathy can cause unusual manifestations that include ophthalmoplegia, ptosis, and dysphagia. This study increased our understanding of the clinical manifestations of VCP myopathy. Muscle Nerve 59 :365–369, 2019