Conditions / Syndrome
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
info · Syndrome
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
Signs and symptoms
- Pelvic girdle amyotrophy
- Aphasia
- Brain atrophy
- Pelvic girdle muscle weakness
- Rimmed vacuoles
- Proximal muscle weakness
- Generalized amyotrophy
- Tetraparesis
- Progressive proximal muscle weakness
- Back pain
Also known as: IBMPFD1; MSP1; multisystem proteinopathy 1