Synonyms: H-ABC
A rare disorder characterized by slowly progressive spasticity extrapyramidal movement disorders (dystonia choreoathetosis and rigidity) cerebellar ataxia moderate to severe cognitive deficit and anarthria/dysarthria.
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 April 2026
Newly diagnosed with
Hypomyelination with atrophy of basal ganglia and cerebellum?
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Advocacy Organizations
Alex, The Leukodystrophy Charity
Support and access to treatment for everyone living with leukodystrophy Provide support for those living with leukodystrophy, and their families/carers Raise awareness of leukodystrophy Improve best practice in prevention, diagnosis & treatment Support research initiatives
Cure LBSL
Our Mission Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Foundation to Fight H-abc
The Foundation to Fight H-ABC’s mission is to raise awareness, advance research, and support patients and families living with H-ABC.
Kinslow TUBB4A Foundation
Our mission is to provide information on accessible and equitable treatment options for every child affected by TUBB4A-related leukodystrophy. We are committed to relentlessly pursuing research, collaboration, and advocacy to ensure that no child's journey is defined by limitations, but rather by possibilities for a healthier and brighter future.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.