Living with Developmental malformations-deafness-dystonia syndrome
A form of dystonia, a movement condition with involuntary muscle contractions, that can come with hearing loss and body differences.
Understanding Developmental malformations-deafness-dystonia syndrome
It is also called juvenile-onset dystonia. Movements range from barely noticeable to severely disabling and painful. Dystonia can affect one muscle, a group of muscles, or all muscles. GARD lists onset from infancy to the teen years. The cause is poorly understood in most cases.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dystonia throughout the body
- Cleft of the mouth
- Cataracts
- Weakened immune system
- Large tongue (macroglossia)
- Swallowing difficulty (achalasia)
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ACTB 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); Eye disease specialists (ophthalmologists); 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
Changes in the ACTB gene have been found in some families, and it is autosomal dominant. The underlying cause is poorly understood in most cases.
Also known as: dds1; developmental malformations-hearing loss-dystonia syndrome; juvenile-onset dystonia
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
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