inclusion body myopathy and brain white matter abnormalities

An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_ba

An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.

Signs and symptoms

• Scapular winging
• Abdominal wall muscle weakness
• Proximal lower limb muscle weakness
• Proximal upper limb muscle weakness
• Elevated circulating creatine kinase activity
• Low back pain
• Areflexia
• Fiber type grouping
• Fatty replacement of skeletal muscle
• Increased endomysial connective tissue

Also known as: multisystem proteinopathy 6