Living with Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
A rare genetic nervous system condition with hearing loss, severe developmental delay, stiff muscles and seizures, starting in infancy.
Understanding Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Babies may grow slowly before birth and have trouble gaining weight. Hearing loss (sensorineural deafness) begins in infancy. People have severe developmental delay, a small head, muscle stiffness with abnormal movements (dystonia), and weakness or paralysis in the limbs. Eye differences, seizures and changes in the brain can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Small head (microcephaly)
- Paralysis of all four limbs (tetraplegia)
- Poor weight gain (failure to thrive)
- Crossed eyes (strabismus)
- Repeated fevers
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in BCAP31 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Dystonia Medical Research Foundation
- 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 Dystonia Medical Research Foundation
- 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 lists changes in the BCAP31 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cadds - contiguous abcd1 dxs1357e deletion syndrome; chromosome xq28 deletion syndrome; contiguous abcd1 dxs1357e deletion syndrome; deafness, dystonia, and cerebral hypomyelination, x-linked recessive; severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; zellweger-like contiguous gene deletion syndrome
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
Broader rare-disease groups
- 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 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome.
Explore research for Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Explore actively recruiting Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome studies with HealthSpark.
Find actively recruiting studies for Severe motor and intellectual disabilities-sensorineural deafness-dystonia 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 motor and intellectual disabilities-sensorineural deafness-dystonia 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 motor and intellectual disabilities-sensorineural deafness-dystonia 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 motor and intellectual disabilities-sensorineural deafness-dystonia 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.