Details of Disease
General Information of Disease (ID: DIS9L9IC)
| Disease Name | SQSTM1-related multisystem proteinopathy | ||||
|---|---|---|---|---|---|
| Synonyms | 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.
|
||||
| Disease Hierarchy | |||||