Living with Spastic paraplegia-Paget disease of bone syndrome
An extremely rare inherited condition with slowly worsening leg stiffness and a bone disease called Paget disease.
Understanding Spastic paraplegia-Paget disease of bone syndrome
Leg stiffness and weakness slowly worsen, starting in adulthood, and occur together with Paget disease of the bone. GARD notes that cognitive decline, dementia and muscle biopsy changes have not been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spastic paraplegia)
- Walking difficulty
- Muscle weakness
- Bone pain
- Joint pain
- Repeated fractures
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
Spastic Paraplegia Foundation 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: Spastic Paraplegia Foundation
- 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 Spastic Paraplegia Foundation
- 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
GARD lists changes in the VCP gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: spastic paraplegia with paget disease of bone syndrome
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic paraplegia-Paget disease of bone syndrome.
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