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Partington syndrome
rareA rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
- Identifiers
- MONDO:0010654 OMIM:309510Orphanet:94083
- Causal genes
- ARX
- Also known as
- intellectual disability, X-linked, syndromic 1 · intellectual disability, X-linked, with dystonic movements, ataxia, and seizures · intellectual disability-dystonic movements-ataxia-seizures syndrome · mental retardation, X-linked 36 · mental retardation, X-linked, syndromic 1
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