Hypomyelination of early myelinating structures

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Hypomyelination of early myelinating structures

Synonyms: HEMS

A rare genetic neurological disorder characterized by hypomyelination of early myelinating structures such as the brainstem cerebellar white matter optic radiation and periventricular white matter while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus developmental delay and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired.

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 2024

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Hypomyelination of early myelinating structures?

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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.

Clinical Trials

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