Conditions / Syndrome
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
info · Syndrome
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
Signs and symptoms
- Centrally nucleated skeletal muscle fibers
- Myopathy
- Pagetic bone lesion
- Rimmed vacuoles
- Skeletal muscle atrophy
- Elevated circulating creatine kinase activity
- Frontotemporal dementia
- Elevated circulating alkaline phosphatase concentration
- Muscle fiber atrophy
- Myositis
Also known as: IBMPFD2; MSP2; multisystem proteinopathy 2