Living with Pelizaeus-Merzbacher disease
An inherited condition of the brain and spinal cord that mainly affects males, with low myelin and movement problems.
Understanding Pelizaeus-Merzbacher disease
It is a leukodystrophy, which means the nervous system's white matter doesn't form enough myelin, the insulation on nerve fibers. There are classic and connatal (present from birth) types. In the classic type, babies have low muscle tone, eye movements they can't control (nystagmus), and delayed motor skills. Later, stiffness and balance problems develop.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Rapid, involuntary eye movements (nystagmus)
- Problems with balance and coordination (ataxia)
- Muscle stiffness (spasticity)
- Muscle tensing (dystonia)
- Intellectual disability
- Trouble walking
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLP1 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); Eye disease specialists (ophthalmologists); 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 PLP1 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: diffuse familial brain sclerosis; hld1; hypomyelinating leukodystrophy 1; leukodystrophy, hypomyelinating, 1; leukodystrophy, sudanophilic; pelizaeus merzbacher brain sclerosis
Patient organizations
- Pelizaeus-Merzbacher Disease FoundationPelizaeus-Merzbacher disease · United States
- Leukodystrophy Resource & Research OrganisationPelizaeus-Merzbacher disease · United Leukodystrophy Foundation
You are more than your diagnosis
Perspectives from people navigating life with Pelizaeus-Merzbacher disease.
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