Pelizaeus-Merzbacher disease

Get in touch with RARE Concierge.

Contact RARE Concierge

Pelizaeus-Merzbacher disease

Synonyms: Diffuse familial brain sclerosis | PMD | Pelizaeus-Merzbacher brain sclerosis | Sudanophilic leukodystrophy, Paelizeus-Merzbacher type

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay nystagmus hypotonia spasticity and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal transitional and classic PMD (see these terms).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
Pelizaeus-Merzbacher disease?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.