Living with Adult polyglucosan body disease
A condition of the nervous system that usually starts between ages 35 and 60, with leg numbness, stiffness, weakness, and bladder problems.
Understanding Adult polyglucosan body disease
People usually first notice symptoms between ages 35 and 60. Early symptoms include numbness and tingling in the legs and slowly worsening muscle weakness and stiffness. This can cause unsteady walking and poor balance. Bladder nerve damage is also common early on. About half of people with APBD have a decline in thinking skills (dementia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Numbness and tingling in the legs (peripheral neuropathy)
- Muscle weakness
- Muscle stiffness (spasticity)
- Unsteady walking
- Bladder control problems (neurogenic bladder)
- Changes in behavior or thinking
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, digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in GBE1 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
APBD Research Foundation, Children's Cardiomyopathy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: APBD Research Foundation, Children's Cardiomyopathy Foundation, The Foundation for Peripheral Neuropathy
- 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 APBD Research Foundation and other patient organizations
- 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 GBE1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: apbd; apbn; polyglucosan body disease adult form; polyglucosan body disease, adult form
Patient organizations
- APBD Research FoundationAdult polyglucosan body disease · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Adult polyglucosan body disease.
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