Synonyms: AHDS | MCT8 deficiency | Monocarboxylate transporter 8 deficiency | X-linked intellectual disability-hypotonia syndrome
An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia muscular hypoplasia spastic paraparesis with dystonic/athetoic movements and severe cognitive deficiency.
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
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Allan-Herndon-Dudley syndrome?
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Advocacy Organizations
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.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
MCT8-AHDS Foundation
We are striving to find a cure; improve the quality of life and potential of our children; support hundreds of families around the world; share hope for a brighter future; learn from our collective experiences and; raise awareness of this ultra-rare condition with doctors, researchers and the general public.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.