Living with Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
A rare, severe syndrome affecting the arteries, hearing, kidneys, brain, and blood sugar, starting in childhood.
Understanding Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
It involves early, widespread atherosclerosis (plaque buildup that narrows arteries) in the aorta and the kidney, heart, and brain arteries. Other features include hearing loss from the inner ear, diabetes, kidney disease, and worsening nerve symptoms with seizures triggered by flashing light. It begins in childhood. GARD notes there have been no further descriptions in the medical literature since 1994.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrowed arteries (atherosclerosis)
- Hearing loss from the inner ear
- Kidney disease (nephropathy)
- Seizures triggered by light (photosensitive myoclonic seizures)
- High blood pressure
- Short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this syndrome. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. Some energy-making parts of cells (mitochondrial complexes) in the kidney are partly deficient.
Also known as: atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome; atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease; feigenbaum-bergeron-richardson syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome.
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