Overview
Deafness-peripheral neuropathy-arterial disease syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in some disease databases, meaning it may have been reclassified or merged with another recognized condition. As originally described, this syndrome involves a combination of hearing loss (deafness), damage to the nerves outside the brain and spinal cord (peripheral neuropathy), and disease of the arteries (arterial or vascular disease). Patients with this condition may experience progressive hearing difficulties, numbness or tingling in the hands and feet, muscle weakness, and problems with blood circulation. The arterial involvement can lead to reduced blood flow to the limbs and other organs. Because this syndrome is so rare and its classification has changed over time, there is limited information about its exact cause, the best treatments, and long-term outcomes. Management has generally been supportive, focusing on treating each symptom individually — such as hearing aids for deafness, medications or physical therapy for neuropathy, and vascular treatments for arterial disease. Patients who suspect they may have this combination of symptoms should seek evaluation by a clinical geneticist to determine whether a more current diagnosis or genetic explanation applies to their condition.
Key symptoms:
Hearing loss or deafnessNumbness or tingling in hands and feetMuscle weakness in the arms or legsPoor blood circulation in the limbsPain or cramping in the legs when walkingCold hands or feetDifficulty with balanceLoss of sensation in the extremitiesFatigueDifficulty hearing conversations
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Has this condition been reclassified, and is there a more current diagnosis that fits my symptoms?,Would genetic testing help identify the cause of my symptoms?,What can I do to slow the progression of my hearing loss and neuropathy?,How often should I have my hearing, nerve function, and blood vessels checked?,Are there any clinical trials or new treatments being studied for conditions like mine?,What lifestyle changes can help manage my arterial disease?,Should my family members be tested or screened for similar symptoms?
Common questions about OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome
What is OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome?
Deafness-peripheral neuropathy-arterial disease syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in some disease databases, meaning it may have been reclassified or merged with another recognized condition. As originally described, this syndrome involves a combination of hearing loss (deafness), damage to the nerves outside the brain and spinal cord (peripheral neuropathy), and disease of the arteries (arterial or vascular disease). Patients with this condition may experience progressive hearing difficulties, numbness or ti