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Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).
Features include sometimes findings: Nystagmus, Horizontal nystagmus, Low muscle tone (hypotonia), and Neurogenic bladder and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 14 | Mental deterioration, Difficulty walking (gait disturbance), Overactive reflexes (hyperreflexia) |
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Pelizaeus-Merzbacher disease in female carriers.
3 publications have been identified in PubMed for Pelizaeus-Merzbacher disease in female carriers. Kisho has analyzed 2 by research type. Research spans Basic Science / Preclinical (100%).
Yuan F (2025). [PMID: 40407739](https://pubmed.ncbi.nlm.nih.gov/40407739/). *J Int Adv Otol*. [Basic Science / Preclinical]
Dimartino P (2024). [PMID: 39078102](https://pubmed.ncbi.nlm.nih.gov/39078102/). *Ann Neurol*. [Basic Science / Preclinical]
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:35 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Pelizaeus-Merzbacher disease in female carriers
2 |
Nystagmus, Horizontal nystagmus |
Arms and legs | 2 | Lower limb spasticity, Hand apraxia |
Muscles | 1 | Low muscle tone (hypotonia) |
Growth and development | 1 | Growth delay |
Kidneys and urinary system | 1 | Abnormality of the lower urinary tract |
AI-curated news mentioning Pelizaeus-Merzbacher disease in female carriers
Updated Feb 17, 2026
A study identifies a canine PLP1 missense variant that influences oligodendrocyte maturation in connatal and classical Pelizaeus-Merzbacher disease. This research could provide insights into the mechanisms underlying these forms of the disease.