Living with Pelizaeus-Merzbacher disease, classic form
The most common form of an inherited brain and spinal cord condition with low myelin, movement problems, and delayed development.
Understanding Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease (PMD) is a leukodystrophy, which means it affects the white matter of the brain and spinal cord. Over time it causes a gradual loss of nervous system function (neurodegenerative). Symptoms begin in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Rapid, involuntary eye movements (nystagmus)
- Delayed sitting and walking
- Muscle stiffness (spasticity)
- Problems with balance and coordination (ataxia)
- Delayed speech
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: classic pmd; type i classic pelizaeus-merzbacher disease
Patient organizations
- Pelizaeus-Merzbacher Disease FoundationPelizaeus-Merzbacher disease, classic form · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Pelizaeus-Merzbacher disease, classic form.
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