Living with Pelizaeus-Merzbacher disease, connatal form
The most severe form of Pelizaeus-Merzbacher disease, present from birth, with low muscle tone and severe developmental delay.
Understanding Pelizaeus-Merzbacher disease, connatal form
It starts in newborns and infants. Children have low muscle tone, rapid involuntary eye movements, and stiff legs. They often have severe intellectual disability, and little or no speech, and are unable to walk.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Rapid, involuntary eye movements (nystagmus)
- Severe intellectual disability
- Little or no speech
- Unable to walk
- Stiff legs (lower limb 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, 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: connatal pmd; pelizaeus-merzbacher disease type ii; severe pmd
Patient organizations
- Pelizaeus-Merzbacher Disease FoundationPelizaeus-Merzbacher disease, connatal form · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
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