Living with Deafness dystonia syndrome
A genetic condition mostly in males, with hearing loss in childhood, later movement and vision problems, and behavior changes.
Understanding Deafness dystonia syndrome
It occurs almost only in males. Hearing loss from inner ear nerve damage starts in early childhood and worsens over time. Movement problems usually begin in the teens. Vision problems from damage to the optic nerve may start in adolescence. Many people also have a gradual decline in thinking skills (dementia) in their forties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss starting in early childhood
- Muscle tensing (dystonia)
- Optic nerve damage (optic atrophy)
- Behavior changes
- Decline in thinking skills
- Hyperactive reflexes
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 TIMM8A 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
United Mitochondrial Disease Foundation and MitoAction 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: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation 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
Changes in the TIMM8A gene cause this condition. GARD lists X-linked and mitochondrial inheritance.
Also known as: ddon syndrome; deafness dystonia optic atrophy syndrome; deafness dystonia optic neuronopathy syndrome; deafness dystonia optic neuronopathy syndrome (ddon); deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; deafness-dystonia syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Deafness dystonia syndrome.
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