Living with Adult-onset distal myopathy due to VCP mutation
A rare genetic muscle disease starting in middle age, with weakness in the lower legs, foot drop, and sometimes dementia.
Understanding Adult-onset distal myopathy due to VCP mutation
It usually starts in middle age with weakness and wasting in the lower leg muscles, causing foot drop. The muscles near the center of the body are not weak. Dementia, Paget disease of bone, and hand weakness have been reported. A muscle biopsy shows changes called rimmed vacuoles.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the muscles far from the body's center
- Foot drop
- Frequent falls
- Dementia
- Weakness and wasting of the hand muscles
- Muscle aches, cramps, and twitches
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in VCP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the VCP gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: adult-onset distal myopathy due to valosin containing protein mutation; adult-onset distal myopathy due to vcp (valosin containing protein) mutation
Patient organizations
- Muscular Dystrophy AssociationAdult-onset distal myopathy due to VCP mutation · United States
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