Overview
Mohr-Tranebjaerg syndrome (MTS) is a very rare inherited condition that mainly affects hearing and the nervous system. It is also known as deafness-dystonia-optic neuronopathy (DDON) syndrome. The condition is caused by a change (mutation) in a gene called TIMM8A, which sits on the X chromosome. Because of this, it mostly affects males, while females who carry the gene change usually have milder symptoms or none at all. The most noticeable early sign is progressive hearing loss that usually begins in childhood. Over time, many people with MTS also develop problems with movement control (called dystonia), which can cause involuntary muscle contractions and awkward postures. Vision loss due to damage to the optic nerve (the nerve connecting the eye to the brain) often appears later in life. Some individuals also experience changes in behavior or thinking, and in some cases, a condition similar to Parkinson's disease can develop in adulthood. There is currently no cure for Mohr-Tranebjaerg syndrome. Treatment focuses on managing symptoms. Hearing aids or cochlear implants can help with hearing loss. Physical therapy, occupational therapy, and medications may help manage movement problems. A team of specialists is usually needed to provide the best care. Early diagnosis is important so that supportive therapies can be started as soon as possible.
Also known as:
Key symptoms:
Progressive hearing loss starting in childhoodInvoluntary muscle contractions or abnormal postures (dystonia)Gradual vision loss due to optic nerve damageDifficulty with balance and coordinationChanges in behavior or personalityDecline in thinking or memory in some individualsSwallowing difficulties in some casesParkinson's-like symptoms (tremor, stiffness, slow movement) in some adultsAnxiety or psychiatric symptoms in some individuals
Clinical phenotype terms (41)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Mohr-Tranebjaerg syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mohr-Tranebjaerg 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 Mohr-Tranebjaerg 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
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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.What genetic testing should my family members have, and what does a positive carrier result mean for female relatives?,Would a cochlear implant be appropriate for my level of hearing loss, and how soon should we consider it?,What therapies are available to help manage my movement problems, and when should we start them?,How often should I have my vision checked, and what signs of worsening should I watch for at home?,Are there any clinical trials or research studies I could participate in?,What support services or educational accommodations are available for someone with this condition?,What should I do if symptoms suddenly get worse — who should I contact first?
Common questions about Mohr-Tranebjaerg syndrome
What is Mohr-Tranebjaerg syndrome?
Mohr-Tranebjaerg syndrome (MTS) is a very rare inherited condition that mainly affects hearing and the nervous system. It is also known as deafness-dystonia-optic neuronopathy (DDON) syndrome. The condition is caused by a change (mutation) in a gene called TIMM8A, which sits on the X chromosome. Because of this, it mostly affects males, while females who carry the gene change usually have milder symptoms or none at all. The most noticeable early sign is progressive hearing loss that usually begins in childhood. Over time, many people with MTS also develop problems with movement control (calle
How is Mohr-Tranebjaerg syndrome inherited?
Mohr-Tranebjaerg syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mohr-Tranebjaerg syndrome typically begin?
Typical onset of Mohr-Tranebjaerg syndrome is childhood. Age of onset can vary across affected individuals.