Living with Hypomyelinating leukodystrophy 12
A rare genetic brain condition seen in families of Ashkenazi Jewish descent, with severe developmental delay from infancy.
Understanding Hypomyelinating leukodystrophy 12
It begins in infancy with severe global developmental delay and little or no speech. Some children have no motor development. Low muscle tone, stiffness (spasticity), and a smaller head size are common. Seizures, hearing loss, vision problems, and autonomic problems have also been described. Brain imaging shows delayed myelin and other white matter changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Absent speech
- Low muscle tone and spasticity
- Small head
- Vision problems from the brain
- Fever-related seizures
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 VPS11 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 United Leukodystrophy Foundation
- 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 VPS11 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hld12; hypomyelinating leukodystrophy type 12; leukodystrophy caused by mutation in vps11; leukodystrophy, hypomyelinating, 12; leukodystrophy, hypomyelinating, type 12; vps11 leukodystrophy
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypomyelinating leukodystrophy 12.
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