SQSTM1-related multisystem proteinopathy

Definition

A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.

Also known as SQSTM1-related multisystem proteinopathy — per MONDO