Conditions / Syndrome
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
info · Syndrome
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Abdominal wall muscle weakness
- Proximal lower limb muscle weakness
- Foot dorsiflexor weakness
- Muscle fiber inclusion bodies
- Rimmed vacuoles
- Elevated circulating alkaline phosphatase concentration
- Loss of ambulation
- Centrally nucleated skeletal muscle fibers
- Myopathy
Also known as: IBMPFD3; MSP3; multisystem proteinopathy 3