Living with Severe intellectual disability-progressive spastic diplegia syndrome
A rare genetic condition with severe learning challenges, a small head, stiff muscles and trouble with coordination.
Understanding Severe intellectual disability-progressive spastic diplegia syndrome
Along with severe intellectual disability, people may have a head that is very small and gets smaller over time (progressive microcephaly). They may also have poor coordination (ataxia), stiff muscles (spasticity), and differences in the skin, hair or face. Signs begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Very small head (microcephaly)
- Stiff, tight muscles (spasticity)
- Loss of skills already learned
- Delayed movement skills
- Poor speech
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CTNNB1 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); Eye disease specialists (ophthalmologists); 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 CTNNB1 Connect & Cure and other patient organizations
- 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
GARD says this condition is caused by changes in the CTNNB1 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: autosomal dominant intellectual disability 19; ctnnb1 syndrome; intellectual disability, autosomal dominant type 19; mrd19; nedsdv; neurodevelopmental disorder with spastic diplegia and visual defects
Patient organizations
- CTNNB1 Connect & CureSevere intellectual disability-progressive spastic diplegia syndrome · United States
- Simons SearchlightSevere intellectual disability-progressive spastic diplegia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Severe intellectual disability-progressive spastic diplegia syndrome.
Explore research for Severe intellectual disability-progressive spastic diplegia syndrome
Explore actively recruiting Severe intellectual disability-progressive spastic diplegia syndrome studies with HealthSpark.
Find actively recruiting studies for Severe intellectual disability-progressive spastic diplegia syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Severe intellectual disability-progressive spastic diplegia syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Severe intellectual disability-progressive spastic diplegia syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Severe intellectual disability-progressive spastic diplegia syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.