Overview
Myoclonus-dystonia syndrome (also called M-D syndrome, DYT11, or epsilon-sarcoglycan-related dystonia) is a rare movement disorder that affects the nervous system. It causes two main types of involuntary movements: myoclonus (sudden, brief muscle jerks that look like electric shocks) and dystonia (sustained muscle contractions that twist or hold the body in abnormal positions). These movements most often affect the upper body, including the arms, neck, and trunk, while the legs are usually less involved. Symptoms typically begin in childhood or early adolescence, often before age 20. The muscle jerks can be mild or severe enough to interfere with everyday tasks like writing, eating, or holding objects. Many people with this condition also experience psychiatric symptoms such as anxiety, depression, obsessive-compulsive disorder (OCD), or alcohol use disorder. Interestingly, alcohol often temporarily reduces the movement symptoms, which can lead some people to use it as a way to cope. The good news is that myoclonus-dystonia is generally not life-shortening, and many people live full lives with proper treatment. Medications can help reduce the muscle jerks and dystonia. For people who do not respond well to medication, a surgical treatment called deep brain stimulation (DBS) has shown very promising results. With the right care team and support, many people with this condition are able to manage their symptoms and maintain a good quality of life.
Key symptoms:
Sudden, brief muscle jerks (myoclonus), especially in the arms and upper bodyInvoluntary muscle twisting or abnormal postures (dystonia)Shaky or jerky handwritingDifficulty holding objects or performing fine hand movementsNeck twisting or abnormal head positionTremor-like shaking of the armsAnxiety or panic attacksDepressionObsessive-compulsive behaviorsAlcohol use disorder (often linked to self-medicating symptoms)Symptoms that temporarily improve with alcoholMild or absent leg involvement compared to armsSymptoms that worsen with stress or fatigue
Clinical phenotype terms (11)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Myoclonus-dystonia syndrome.
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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 Myoclonus-dystonia syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Which gene mutation do I have, and what does that mean for my family members?,Should my children or siblings be tested for this condition?,What medications would you recommend first, and what side effects should I watch for?,Am I a candidate for deep brain stimulation, and when should we consider it?,How should I address the anxiety or depression that comes with this condition?,Are there any clinical trials I should know about?,What specialists should be part of my care team?
Common questions about Myoclonus-dystonia syndrome
What is Myoclonus-dystonia syndrome?
Myoclonus-dystonia syndrome (also called M-D syndrome, DYT11, or epsilon-sarcoglycan-related dystonia) is a rare movement disorder that affects the nervous system. It causes two main types of involuntary movements: myoclonus (sudden, brief muscle jerks that look like electric shocks) and dystonia (sustained muscle contractions that twist or hold the body in abnormal positions). These movements most often affect the upper body, including the arms, neck, and trunk, while the legs are usually less involved. Symptoms typically begin in childhood or early adolescence, often before age 20. The musc
How is Myoclonus-dystonia syndrome inherited?
Myoclonus-dystonia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Myoclonus-dystonia syndrome typically begin?
Typical onset of Myoclonus-dystonia syndrome is juvenile. Age of onset can vary across affected individuals.
Which specialists treat Myoclonus-dystonia syndrome?
3 specialists and care centers treating Myoclonus-dystonia syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.