Living with Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
A rare genetic syndrome with developmental delay, intellectual disability, hand tremor, and behavior changes.
Understanding Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
It causes global developmental delay, moderate to severe intellectual disability, and trouble with movement and language. Behavior changes can include mood swings, aggression, and self-harm. The hand tremor gets worse over time. Certain facial features are also common. GARD lists onset in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development
- Severe intellectual disability
- Hand tremor
- Poor speech
- Aggressive behavior and mood swings
- Waddling walk
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC6A17 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the SLC6A17 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: intellectual developmental disorder, autosomal recessive 48; intellectual disability, autosomal recessive type 48; progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome.
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