Living with Hypomyelinating leukodystrophy 3
A rare genetic brain condition from infancy caused by changes in the AIMP1 gene, with developmental delay and stiffness.
Understanding Hypomyelinating leukodystrophy 3
It begins in newborns and infants. Features can include a small head, no speech, global developmental delay, stiff legs, fast eye movements, and vision problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Absent speech
- Small head (microcephaly)
- Stiff legs (spastic paraparesis)
- Seizures
- Fast eye movements (nystagmus)
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 AIMP1 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
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: 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 Hunter's Hope 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 AIMP1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aimp1 leukodystrophy; hld3; hypomyelinating leukodystrophy type 3; leukodystrophy caused by mutation in aimp1; leukodystrophy, hypomyelinating, type 3; pelizaeus-merzbacher-like disease due to aimp1 mutation
Patient organizations
- Hunter's Hope FoundationHypomyelinating leukodystrophy 3 · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypomyelinating leukodystrophy 3.
Explore research for Hypomyelinating leukodystrophy 3
Explore actively recruiting Hypomyelinating leukodystrophy 3 studies with HealthSpark.
Find actively recruiting studies for Hypomyelinating leukodystrophy 3 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 Hypomyelinating leukodystrophy 3 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 Hypomyelinating leukodystrophy 3
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 Hypomyelinating leukodystrophy 3 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.