Living with Progressive sclerosing poliodystrophy
A POLG-related condition, also called Alpers-Huttenlocher syndrome, with seizures, loss of skills, and liver disease in childhood.
Understanding Progressive sclerosing poliodystrophy
It usually becomes clear in children between ages 2 and 4. Three main features are seizures that don't improve with treatment, loss of mental and movement skills, and liver disease. Other signs can include poor coordination, nerve problems, low muscle tone, migraines, and vision or hearing loss. GARD lists onset as varying by age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures, including ones hard to treat
- Loss of developmental skills
- Poor balance and coordination (ataxia)
- Low muscle tone (hypotonia)
- Sudden muscle jerks (myoclonus)
- Absent reflexes (areflexia)
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 seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in POLG 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
Epilepsy Foundation, United Mitochondrial Disease Foundation and MitoAction 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, United Mitochondrial Disease Foundation, MitoAction
- 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 CureARS 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
This condition is caused by changes in the POLG gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: ahd; ahs; alper syndrome; alper's disease; alper's syndrome; alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
Patient organizations
- CureARSProgressive sclerosing poliodystrophy · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · 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 Progressive sclerosing poliodystrophy.
Explore research for Progressive sclerosing poliodystrophy
Explore actively recruiting Progressive sclerosing poliodystrophy studies with HealthSpark.
Find actively recruiting studies for Progressive sclerosing poliodystrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Progressive sclerosing poliodystrophy studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Progressive sclerosing poliodystrophy
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Progressive sclerosing poliodystrophy experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.