inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.

What is inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1?

inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Back painFacial palsyHip painLimb muscle weaknessPelvic girdle muscle weaknessProgressive proximal muscle weaknessProximal muscle weaknessScapular wingingShoulder girdle muscle weakness

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.