Living with Dystonia-aphonia syndrome
A rare inherited condition with slowly worsening dystonia that affects the face and mouth, speech, swallowing, and walking.
Understanding Dystonia-aphonia syndrome
Dystonia often begins in the face and mouth area and spreads downward. It can cause severe loss of speech and voice (anarthria and aphonia), trouble swallowing, and changes in walking. Other features can include slowed eye movements, seizures, muscle jerks triggered by light, an enlarged tongue or gums, delayed milestones, and thinking difficulties. It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widespread muscle tightening (generalized dystonia)
- Loss of clear speech (anarthria)
- Trouble swallowing (dysphagia)
- Trouble chewing
- Changes in walking
- Seizures
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 a person's genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dystonia aphonia 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 Dystonia-aphonia syndrome.
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