Living with Peroxisome biogenesis disorder 4B
A rare inherited condition with balance and coordination problems that begin early, along with hearing loss and blindness.
Understanding Peroxisome biogenesis disorder 4B
It is a syndromic cerebellar ataxia, which means problems with coordination (ataxia) come with other body-wide signs. Some people also have nerve damage in the limbs. Brain MRI shows changes in the white matter of the cerebellum without shrinkage. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Progressive problems with balance and coordination (ataxia)
- Hearing loss
- Vision loss and blindness
- Nerve damage causing numbness and weakness
- Quick, involuntary eye movements (nystagmus)
- Head tremor
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 PEX6 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
National Ataxia Foundation and United Leukodystrophy 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: National Ataxia 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 the PEX6 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive cerebellar ataxia-blindness-deafness syndrome; autosomal recessive spinocerebellar ataxia type 3; autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; pbd4b; peroxisome biogenesis disorder type 4b; scabd
Patient organizations
- Global Foundation for Peroxisomal DisordersPeroxisome biogenesis disorder 4B · United States
- National Ataxia FoundationAtaxia · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Peroxisome biogenesis disorder 4B.
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