Adolescent-onset multisystem proteinopathy due to a novel VCP variant.
Neuromuscul Disord
; 34: 89-94, 2024 Jan.
Article
em En
| MEDLINE
| ID: mdl-38159460
ABSTRACT
Valosin-containing protein (VCP) pathogenic variants are the most common cause of multisystem proteinopathy presenting with inclusion body myopathy, amyotrophic lateral sclerosis/frontotemporal dementia, and Paget disease of bone in isolation or in combination. We report a patient manifesting with adolescent-onset myopathy caused by a novel heterozygous VCP variant (c.467G > T, p.Gly156Val). The myopathy manifested asymmetrically in lower limbs and extended to proximal, axial, and upper limb muscles, with loss of ambulation at age 35. Creatine kinase value was normal. Alkaline phosphatase was elevated. Electromyography detected mixed low amplitude, short duration and high amplitude, long duration motor unit potentials. Muscle biopsy showed features of inclusion body myopathy, which in combination with newly diagnosed Paget disease of bone, supported the VCP variant pathogenicity. In conclusion, VCP-multisystem proteinopathy is not only a disease of adulthood but can have a pediatric onset and should be considered in differential diagnosis of neuromuscular weakness in the pediatric population.
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Base de dados:
MEDLINE
Assunto principal:
Osteíte Deformante
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Miosite de Corpos de Inclusão
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Deficiências na Proteostase
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Doenças Musculares
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article