Living with Hypomyelinating leukodystrophy 10
A rare genetic brain condition from infancy with a small head, little myelin in the brain, and severe developmental delay.
Understanding Hypomyelinating leukodystrophy 10
Myelin is the covering on nerve fibers. People have a head that grows slowly after birth, severe delays in development, and absent speech. Muscle tone is low in the trunk and high in the arms and legs. Muscle wasting and slow weight gain occur. Facial features can include a triangular face and large ears. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little myelin in the brain
- Small head that grows slowly
- Absent speech
- Intellectual disability
- Seizures
- Low muscle tone and spasticity
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 PYCR2 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 PYCR2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hld10; hypomyelinating leukodystrophy type 10; leukodystrophy caused by mutation in pycr2; leukodystrophy, hypomyelinating, 10; leukodystrophy, hypomyelinating, type 10; pycr2 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 10.
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