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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy ...
Abstract: Abstract Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget’s disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, ...
Keyword: 110309 Infectious Diseases; 69999 Biological Sciences not elsewhere classified; Biotechnology; Cancer; Cell Biology; FOS Biological sciences; FOS Health sciences; Hematology; Medicine; Molecular Biology; Science Policy
URL: https://springernature.figshare.com/collections/Development_of_a_standard_of_care_for_patients_with_valosin-containing_protein_associated_multisystem_proteinopathy/5817084/1
https://dx.doi.org/10.6084/m9.figshare.c.5817084.v1
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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy ...
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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
In: Orphanet J Rare Dis (2022)
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