Atherosclerosis-deafness-diabetes-epilepsy-nephropathy 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.

Also known as: Feigenbaum-Bergeron-Richardson syndrome, Feigenbaum Bergeron Richardson syndrome, atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease, premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder

0 clinical trials for this condition and its sub-types, 0 tagged with Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome itself.