Living with Dyskinesia with orofacial involvement, autosomal dominant
A movement disorder with sudden jerks, twitches, and muscle tensing in the limbs, neck, and face, usually starting from infancy to the teen years.
Understanding Dyskinesia with orofacial involvement, autosomal dominant
Movements can look like sudden jerks, twitches, tremors, muscle tensing (dystonia), or writhing. They can affect the limbs, neck, and face, and often happen when changing position. They usually begin between infancy and late adolescence and can disturb sleep. Severity varies. Some people have little effect on walking, while severely affected infants may have low muscle tone and delayed motor skills. Stress, anxiety, and fatigue can make symptoms worse, and some people have days or weeks without symptoms. Most have normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Involuntary jerking movements (chorea, myoclonus)
- Muscle tensing (dystonia)
- Movements of the mouth and face (orofacial dyskinesia)
- Tremor at rest
- Trouble with speech (dysarthria)
- Changes in walking (gait)
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 ADCY5 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
ADCY5.org 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: ADCY5.org
- 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 ADCY5.org
- 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 ADCY5 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dskod; dyskinesia, familial, with facial myokymia; familial dyskinesia and facial myokymia; fdfm; fdfm - familial dyskinesia and facial myokymia
Patient organizations
- ADCY5.orgDyskinesia with orofacial involvement, autosomal dominant · United States
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