On the initiative and with the support of the patient association concerned (Cure VCP Disease), a group of American experts worked on the development of recommendations for the diagnosis and management of people with abnormalities of the VCP gene:
- this gene is responsible for a clinical picture classically associating inclusion body myopathy, Paget’s disease and frontotemporal dementia;
- the diagnosis may be more difficult in the case of atypical forms (association with a parkinsonian syndrome or anterior horn involvement);
- the use of high-throughput sequencing (next-generation sequencing or NGS) now facilitates genotypic diagnosis and allows genetic counseling for the rest of the family, this condition being autosomal dominant;
- a multidisciplinary follow-up in a reference center is necessary in all cases.
