Alkaline ceramidase 3 deficiency

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Alkaline ceramidase 3 deficiency

Synonyms: ACER3-related early childhood-onset progressive leukodystrophy | Leukodystrophy due to alkaline ceramidase 3 deficiency

A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia appendicular spasticity dystonia optic disc pallor peripheral neuropathy and neurogenic bladder. Patients also present multiple contractures late-onset relative macrocephaly short stature and facial dysmorphism (including coarse facial features sloping forehead thick eyebrows low-set ears prominent nose flat philtrum and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.

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: // Data version October 2023.

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Alkaline ceramidase 3 deficiency?

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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

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