What is PMLD and what are its symptoms?
Pelizaeus-Merzbacher-Like Disease, or PMLD, is a slowly progressive disease of myelin, which is the white matter of the central nervous system (brain and spinal cord).
In patients with PMLD, the myelin does not form properly. Myelin insulates the nerves for proper conduction of nerve impulses. When the myelin does not form properly, nerve impulses do not travel properly in the central nervous system
The symptoms of PMLD are: weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of speech and motor skills, such as sitting or grasping objects, and muscle stiffness (spasticity), which replaces hypotonia as children get older.
For more information on PMLD, see PubMed.gov - Pelizaeus-Merzbacher-Like Disease 1 and NIH National Library of Medicine - Genetics Home Reference.
Read About PMLD Families & News
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Share your story with our PMLD families
Connections form community.
Family stories help heal, inform, and inspire people in our PMLD community. Sharing your experiences also raises awareness of very important issues and potential areas to study.
That’s why the PMD Foundation wants to hear from you! We’re collecting stories of families and people living with PMLD.
Details:
Write your story in first (your experience) or third person (their experience).
Take as much space as you need to - stories can be 100 or 1,000 words!
Email accompanying photos to contact@pmdfoundation.com after submitting your story.
Please accept the terms that we’ll potentially feature your family story on the website and on social media.
Our staff will read your story and contact you if your story will be included in this year’s project!
PMLD Research
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-Like Disease 1, and related hypomyelinating disorders
Hobson GM, Garbern JY. Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15.
GJC2 promoter mutations causing Pelizaeus-Merzbacher-Like Disease.
Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A.
Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16.
Pelizaeus-Merzbacher-Like Disease 1
Norah Nahurphy 2, Adeline Vanderver 1 3, Grace Hobson 4
Margaret P Adam, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2017 Dec 21 [updated 2019 Jan 17].
GJA12 mutations in children with recessive hypomyelinating …
by M Bugiani · 2006 · Cited by 114 — Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and spasticity, due to a permanent lack of myelin …
Join the PMLD Community
One of the functions of the PMD Foundation website is to bring everyone together as a community. It is our intention that families with PMLD-affected children should get to know one another. Our community of families tells us that this is particularly helpful when they first receive a diagnosis. If you’d like to be connected to a PMLD family, you can contact us at pmld@pmdfoundation.com