Clinical spectrum of valosin containing protein (VCP)-opathy.
Muscle Nerve
; 54(1): 94-9, 2016 06.
Article
em En
| MEDLINE
| ID: mdl-26574898
ABSTRACT
INTRODUCTION:
Valosin containing protein (VCP) mutations cause a rare disorder characterized by hereditary inclusion body myopathy, Paget disease of bone (PDB), and frontotemporal dementia (FTD) with variable penetrance. VCP mutations have also been linked to amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2.METHODS:
Review of clinical, serological, electrophysiological, and myopathological findings of 6 VCP-opathy patients from 4 unrelated families.RESULTS:
Patients manifested muscle weakness between ages 40 and 53 years and developed predominant asymmetric limb girdle weakness. One patient had distal weakness at onset and co-existing peripheral neuropathy. Another patient had PDB, 1 had mild cognitive deficits, and 1 had FTD. All patients had myopathic and neurogenic electromyographic findings with predominant neurogenic changes in 2. Rimmed vacuoles were infrequent, while neurogenic changes were prominent in muscle biopsies.CONCLUSIONS:
VCP-opathy is a multifaceted disorder in which myopathy and peripheral neuropathy can coexist. The electrophysiological and pathological neurogenic changes raise the possibility of coexisting motor neuron involvement. Muscle Nerve, 2015 Muscle Nerve 54 94-99, 2016 Muscle Nerve 54 94-99, 2016.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Osteíte Deformante
/
Adenosina Trifosfatases
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Proteínas de Ciclo Celular
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Demência Frontotemporal
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Mutação
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Estados Unidos