Living with Partington syndrome
A genetic condition with intellectual disability and dystonia of the hands, usually in males.
Understanding Partington syndrome
It usually affects males, and females tend to have milder signs. Intellectual disability is usually mild to moderate. Dystonia of the hands (the Partington sign) begins in early childhood, slowly worsens, and makes grasping and writing hard. Some people have autism traits or seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability, mild to moderate
- Hand dystonia (muscle contractions)
- Slurred speech (dysarthria)
- Awkward walking (gait)
- Stiff leg muscles
- Large testes in males
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ARX 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy 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 Simons Searchlight 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 ARX gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: mental retardation-dystonic movements-ataxia-seizures syndrome; partington syndrome, x-linked recessive; partington x-linked intellectual disability syndrome; partington-mulley syndrome; x-linked intellectual deficit-dystonia-dysarthria syndrome; x-linked intellectual disability-dystonia-dysarthria syndrome
Patient organizations
- Simons SearchlightPartington syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Partington syndrome.
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