Living with Dystonia 28, childhood-onset
A rare genetic condition that starts in infancy or childhood with muscle tightening that gets worse over time and spreads, along with developmental delay.
Understanding Dystonia 28, childhood-onset
The muscle contractions usually begin in the legs and then spread to the arms, trunk, face, and neck. People have developmental delay and intellectual disability of varying levels. They may have a slightly smaller head, shorter height, unusual eye movements, and slightly different facial features. It usually starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tightening throughout the body (generalized dystonia)
- Leg dystonia
- Intellectual disability
- Delays in development
- Trouble speaking and swallowing
- Small head size and short height
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 KMT2B 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); 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 says changes in the KMT2B gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: dystonia 28; dystonia 28, childhood-onset; dyt28; dystonic disorder caused by mutation in kmt2b; dyt28; dyt28 - dystonia 28
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 Dystonia 28, childhood-onset.
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