Overview
Hemidystonia-hemiatrophy syndrome is a rare neurological condition in which one side of the body is affected by two main problems: dystonia (involuntary muscle contractions that cause abnormal postures and twisting movements) and atrophy (shrinking or wasting of body tissues, including muscles and sometimes bone). The condition typically affects the arm, leg, and sometimes the face on one side of the body. The dystonia can cause painful, sustained muscle spasms and difficulty with voluntary movements, while the hemiatrophy leads to a noticeable difference in size between the affected and unaffected sides. The exact cause of hemidystonia-hemiatrophy syndrome is not fully understood in many cases. It can be associated with damage to the basal ganglia, a deep brain structure that helps control movement. This damage may result from stroke, brain injury, infections, or other insults to the brain, particularly during early development. In some cases, no clear cause is found. Treatment is mainly focused on managing symptoms, as there is currently no cure. Options include medications to reduce muscle spasms (such as anticholinergics, baclofen, or benzodiazepines), botulinum toxin injections into affected muscles, physical and occupational therapy, and in severe cases, deep brain stimulation surgery. The goal of treatment is to reduce pain, improve function, and enhance quality of life.
Also known as:
Key symptoms:
Involuntary muscle contractions on one side of the bodyAbnormal twisting postures of the arm or legMuscle wasting or shrinking on one sideOne arm or leg noticeably smaller than the otherDifficulty using the hand on the affected sidePainful muscle spasmsStiffness in the affected limbsDifficulty walking or limpingFacial asymmetry in some casesReduced range of motion on the affected sideFatigue in the affected limbsDifficulty with fine motor tasks like writing
Clinical phenotype terms (15)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hemidystonia-hemiatrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hemidystonia-hemiatrophy 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 Hemidystonia-hemiatrophy syndrome.
Community
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Caregiver Resources
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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 is the likely cause of the hemidystonia and hemiatrophy in my case?,What brain imaging findings were seen, and what do they mean?,Would botulinum toxin injections help my symptoms, and how often would I need them?,Am I a candidate for deep brain stimulation surgery?,What physical therapy exercises would be most helpful for maintaining function?,Should genetic testing be done to rule out hereditary causes?,What can I expect in terms of how this condition may change over time?
Common questions about Hemidystonia-hemiatrophy syndrome
What is Hemidystonia-hemiatrophy syndrome?
Hemidystonia-hemiatrophy syndrome is a rare neurological condition in which one side of the body is affected by two main problems: dystonia (involuntary muscle contractions that cause abnormal postures and twisting movements) and atrophy (shrinking or wasting of body tissues, including muscles and sometimes bone). The condition typically affects the arm, leg, and sometimes the face on one side of the body. The dystonia can cause painful, sustained muscle spasms and difficulty with voluntary movements, while the hemiatrophy leads to a noticeable difference in size between the affected and unaff
How is Hemidystonia-hemiatrophy syndrome inherited?
Hemidystonia-hemiatrophy syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.