Overview
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome, often called SANDO, is a rare inherited disease that affects the nervous system and muscles. It is caused by problems in the mitochondria — the tiny power plants inside your cells that produce energy. When mitochondria do not work properly, the parts of the body that need the most energy, like nerves and muscles, are hit the hardest. The main features of SANDO include sensory ataxia (difficulty with balance and coordination because the nerves that tell your brain where your body is in space stop working properly), dysarthria (slurred or difficult speech caused by weak muscles in the mouth and throat), and ophthalmoparesis (weakness or paralysis of the eye muscles, making it hard to move the eyes normally). People with SANDO may also experience muscle weakness, hearing loss, and cognitive changes over time. SANDO is part of a group of conditions called mitochondrial DNA depletion syndromes. It is most often caused by changes (mutations) in the POLG gene. There is currently no cure for SANDO, but supportive treatments can help manage symptoms and improve quality of life. The disease tends to progress slowly over many years, and the experience can vary quite a bit from person to person.
Also known as:
Key symptoms:
Poor balance and unsteady walking (sensory ataxia)Slurred or slow speech (dysarthria)Weakness or inability to move the eyes normally (ophthalmoparesis)Drooping eyelids (ptosis)Numbness, tingling, or loss of feeling in the hands and feetMuscle weaknessHearing lossDifficulty swallowingMemory problems or cognitive changesFatigue and low energySeizures in some peopleDepression or mood changes
Clinical phenotype terms (31)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Sensory ataxic neuropathy-dysarthria-ophthalmoparesis 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 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome.
Community
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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.Which specific POLG mutations do I have, and what do they mean for my prognosis?,Are there any medications I should avoid because of my POLG mutation, such as valproic acid?,What therapies — physical, occupational, or speech — do you recommend starting now?,Should other family members be tested for POLG mutations?,Are there any clinical trials for SANDO or POLG-related diseases that I might be eligible for?,How often should I have follow-up appointments, and what monitoring tests do I need regularly?,What signs of worsening should prompt me to seek emergency care?
Common questions about Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
What is Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome?
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome, often called SANDO, is a rare inherited disease that affects the nervous system and muscles. It is caused by problems in the mitochondria — the tiny power plants inside your cells that produce energy. When mitochondria do not work properly, the parts of the body that need the most energy, like nerves and muscles, are hit the hardest. The main features of SANDO include sensory ataxia (difficulty with balance and coordination because the nerves that tell your brain where your body is in space stop working properly), dysarthria (slu
How is Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome inherited?
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome typically begin?
Typical onset of Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is adult. Age of onset can vary across affected individuals.