Living with Hypomyelinating leukodystrophy 2
A rare genetic nervous system condition, a Pelizaeus-Merzbacher-like disease, with eye movement, muscle tone, and development problems from early life.
Understanding Hypomyelinating leukodystrophy 2
Symptoms appear at birth or in early childhood. They include uncontrolled eye movements (nystagmus) and low muscle tone, plus delays in crawling, standing, or walking. Speech may be delayed. Over time, muscles become stiff and hard to control, which can affect mobility and communication. Some people have swallowing trouble, dislocated hips, or scoliosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fast, shaky eye movements (nystagmus)
- Motor delays
- Muscle stiffness (spastic paraparesis)
- Poor coordination (ataxia)
- Speech difficulty (dysarthria)
- Poor head control
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 GJC2 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
Pelizaeus-Merzbacher Disease 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: Pelizaeus-Merzbacher Disease 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 Pelizaeus-Merzbacher 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
Changes in the GJC2 gene cause this condition. It is autosomal recessive, meaning two changed copies of the gene are needed to cause it.
Also known as: gjc2 leukodystrophy; hld2; hypomyelinating leukodystrophy type 2; leukodystrophy caused by mutation in gjc2; leukodystrophy, hypomyelinating, type 2; pelizaeus merzbacher like disease due to gjc2 mutation
Patient organizations
- Pelizaeus-Merzbacher Disease FoundationHypomyelinating leukodystrophy 2 · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypomyelinating leukodystrophy 2.
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