Case report of a family with hereditary inclusion body myopathy with
VCP gene
VCP related disease
degenerative disease
inclusion body myopathy
multisystem proteinopathy
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2023
2023
Historique:
received:
08
09
2023
accepted:
17
11
2023
medline:
26
12
2023
pubmed:
26
12
2023
entrez:
26
12
2023
Statut:
epublish
Résumé
Missense The patient's phenotype includes symmetrical muscle wasting and weakness in the proximal parts of the limbs and axial muscles, a wide based gait, lordotic posture, positive Gowers' sign, mild calf enlargement, impaired mobility, elevated CK, and myopathy in proximal limb muscles. Whole body MRI revealed fatty replacement, predominantly affecting right vastus intermedius and medialis, gastrocnemius and soleus in calf, abdomen wall and lumbar muscles. Next-generation sequencing analysis revealed a pathogenic heterozygous variant c.277C > T (p.(Arg93Cys)) in exon 3 of the The patients described experienced muscle wasting and weakness in the proximal and distal parts of the limbs which is a common finding in VCP related disease. Nevertheless, the patient has distinguishing features, such as high CK levels, early onset of the disease, and rapid mobility decline.
Sections du résumé
Background
UNASSIGNED
Missense
Case presentation
UNASSIGNED
The patient's phenotype includes symmetrical muscle wasting and weakness in the proximal parts of the limbs and axial muscles, a wide based gait, lordotic posture, positive Gowers' sign, mild calf enlargement, impaired mobility, elevated CK, and myopathy in proximal limb muscles. Whole body MRI revealed fatty replacement, predominantly affecting right vastus intermedius and medialis, gastrocnemius and soleus in calf, abdomen wall and lumbar muscles. Next-generation sequencing analysis revealed a pathogenic heterozygous variant c.277C > T (p.(Arg93Cys)) in exon 3 of the
Conclusion
UNASSIGNED
The patients described experienced muscle wasting and weakness in the proximal and distal parts of the limbs which is a common finding in VCP related disease. Nevertheless, the patient has distinguishing features, such as high CK levels, early onset of the disease, and rapid mobility decline.
Identifiants
pubmed: 38146440
doi: 10.3389/fneur.2023.1290960
pmc: PMC10749511
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1290960Informations de copyright
Copyright © 2023 Asadauskaitė, Vilimienė, Augustinavičius and Burnytė.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.