Living with Zellweger spectrum disorders
A group of inherited conditions that begin in the newborn period, with low muscle tone, feeding trouble, seizures, and hearing and vision loss.
Understanding Zellweger spectrum disorders
Signs may include poor muscle tone, poor feeding, seizures, hearing loss, vision loss, distinct facial features and bone differences. The liver, heart and kidneys can also be affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor muscle tone and feeding difficulties
- Seizures
- Hearing loss and vision problems (such as cataract)
- Enlarged liver
- Poor weight gain (failure to thrive)
- Distinct facial features, such as a high forehead and flat face
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation, Epilepsy Foundation and United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation, Epilepsy Foundation, United Leukodystrophy 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 Global Foundation for Peroxisomal Disorders 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 any one of at least 12 genes cause this group of conditions. Changes in the PEX1 gene are the most common cause. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cerebrohepatorenal syndrome; congenital iron overload; severe pbd-zsd; severe peroxisome biogenesis disorder-zellweger spectrum disorder; zellweger spectrum; zellweger spectrum disorder
Patient organizations
- Global Foundation for Peroxisomal DisordersZellweger spectrum disorders · United States
- National Ataxia FoundationAtaxia · United States
- Epilepsy FoundationEpilepsy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- United Leukodystrophy FoundationLeukodystrophies · 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 Zellweger spectrum disorders.
Explore research for Zellweger spectrum disorders
Explore actively recruiting Zellweger spectrum disorders studies with HealthSpark.
Find actively recruiting studies for Zellweger spectrum disorders 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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