Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

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Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Synonyms: Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome | Feigenbaum-Bergeron-Richardson syndrome

A rare severe circulatory system disease characterized by premature diffuse severe atherosclerosis (including the aorta and renal coronary and cerebral arteries) sensorineural deafness diabetes mellitus progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.

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 Data version March 2024

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Clinical Trials

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