adult-onset distal myopathy due to VCP mutation

Adult-onset distal myopathy due to VCP mutation is a rare genetic muscle disorder that typically starts in middle age. It mainly affects the muscles in the lower legs, causing weakness and wasting that often leads to a foot drop. This pattern of muscle weakness is distinct because it does not involve the proximal or scapular muscles. In addition to leg muscle involvement, some people with this condition may experience rapidly progressive dementia, hand weakness, and signs of Paget disease of bone. A muscle biopsy often reveals characteristic changes with rimmed vacuoles, which helps doctors in confirming the diagnosis.

Common symptoms of adult-onset distal myopathy due to VCP mutation include distal leg muscle weakness, atrophy in the anterior compartment leading to foot drop, and hand weakness. In some cases, people may also experience rapidly progressive dementia and bone problems related to Paget disease.

This condition is caused by a mutation in the VCP gene, making it a hereditary disorder. The mutation leads to changes in the muscles, particularly affecting the distal muscles of the legs. Detailed information on genetic patterns or additional risk factors is limited at this time.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.