Overview
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain and nervous system. People with this syndrome typically develop a tremor that gets worse over time (called progressive essential tremor), along with difficulty speaking clearly. The condition also causes distinctive facial features (facial dysmorphism), intellectual disability that ranges from mild to severe, and behavioral challenges that may include anxiety, aggression, or other behavioral differences. This syndrome usually becomes apparent in childhood, when parents or caregivers may notice delays in reaching developmental milestones such as speaking or learning. The tremor may start mild but tends to worsen as the person grows older, making everyday tasks like writing, eating, or dressing more difficult. Speech problems can range from slurred speech to significant difficulty being understood by others. Because this condition is so rare, there is currently no cure or specific treatment. Management focuses on addressing individual symptoms through therapies such as speech therapy, occupational therapy, behavioral support, and medications to help control tremor. A team of specialists typically works together to provide the best possible care and quality of life for affected individuals.
Key symptoms:
Tremor that gets worse over timeDifficulty speaking or slurred speechIntellectual disabilityUnusual facial featuresBehavioral problems such as aggression or anxietyDelayed developmental milestonesDifficulty with fine motor tasks like writingLearning difficultiesPoor coordinationDifficulty with daily self-care tasksSocial interaction challenges
Clinical phenotype terms (22)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome.
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Specialists
View all specialists →No specialists are currently listed for Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior 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 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior 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.What genetic testing should be done to confirm the diagnosis?,Are there medications that could help reduce my child's tremor?,What therapies (speech, occupational, behavioral) do you recommend and how often?,How is the tremor expected to change over time, and what can we do to prepare?,What educational supports or accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for this condition?
Common questions about Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
What is Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome?
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain and nervous system. People with this syndrome typically develop a tremor that gets worse over time (called progressive essential tremor), along with difficulty speaking clearly. The condition also causes distinctive facial features (facial dysmorphism), intellectual disability that ranges from mild to severe, and behavioral challenges that may include anxiety, aggression, or other b
How is Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome inherited?
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome typically begin?
Typical onset of Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome is childhood. Age of onset can vary across affected individuals.