SQSTM1-related multisystem proteinopathy

SQSTM1-related multisystem proteinopathy is a group of disorders that can affect several body systems. It includes conditions such as Paget disease of bone, which affects the structure of bones; inclusion body myopathy, which impacts muscle strength and function; and, less often, frontotemporal dementia and amyotrophic lateral sclerosis, which affect the brain and nerves. The condition is highly variable. This means that even people in the same family may experience different associated features. Some may have more pronounced bone problems, while others may experience muscle or cognitive challenges. The range of symptoms and severity makes this disorder a complex condition that is still being understood by researchers and clinicians.

People with SQSTM1-related multisystem proteinopathy can show symptoms related to different organs. This may include signs of Paget disease of bone such as bone pain or structural changes, muscle weakness or difficulties from inclusion body myopathy, and, in some cases, symptoms associated with brain conditions like changes in behavior or movement seen in frontotemporal dementia or amyotrophic lateral sclerosis. However, not everyone will experience all of these symptoms and the presentation can vary widely.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.