Living with Encephalopathy due to mitochondrial and peroxisomal fission defect
A rare mitochondrial condition with delayed development or lost skills, low muscle tone, seizures, and vision nerve damage.
Understanding Encephalopathy due to mitochondrial and peroxisomal fission defect
It varies widely. Features can include delays in development or loss of skills, low muscle tone, seizures, a small head, optic nerve damage, and nerve problems in the arms and legs. Age at onset and severity differ from person to person. Blood lactate levels may be raised, and brain scans may show changes in the basal ganglia, brain shrinkage, or white matter changes. It begins between birth and childhood.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition, but the summary describes these features:
- Delays in development or loss of skills
- Low muscle tone (hypotonia)
- Seizures
- Small head size (microcephaly)
- Optic nerve damage (optic atrophy)
- Nerve problems in the arms and legs
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation, MitoAction and The Foundation for Peripheral Neuropathy 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: United Mitochondrial Disease Foundation, MitoAction, 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 United Mitochondrial Disease 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
GARD says changes in a person's genes cause this condition. It is listed as mitochondrial inheritance.
Also known as: encephalopathy due to defective mitochondrial and peroxisomal fission
Patient organizations
- 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 Encephalopathy due to mitochondrial and peroxisomal fission defect.
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