[MIM 309 510]

(Partington-Mulley syndrome)

Prevalence: <1 / 1,000,000. X-linked recessive transmission of a mutation of the ARX gene (Xp21.3). The disease is expressed only in male patients.

Mild to moderate intellectual disability associated with :

-        dysarthria, oro-lingual dyspraxia, speech disorders

-        dystonic hand movements.

Behavioral disorders (hyperactivity, stereotypies, anxiety), early epileptic seizures, unusual gait (lumbar hyperlordosis with dorsal kyphosis) are sometimes observed.

See also: non-syndromic X-linked intellectual disabilities

Anesthetic implications:

intellectual retardation, epilepsy

References :

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Updated: January 2024