Inheritance of a MECP2 disorder is X-linked, with classic Rett syndrome seen in females. Affected males show a different phenotype, one of which involves severe intellectual disability.
Patient selection: male infant or child
Clinical features:
(1) moderate-to-severe intellectual disability
(2) resting tremor
(3) slowness of movements
(4) ataxia
(5) psychosis or behavioral problems
(6) progressive spasticity
Some patients show the PPM-X syndrome (associated with p.(Ala140Val) variant):
(1) pyramidal signs
(2) parkinsonism
(3) macroorchidism
Features that differ from neonatal encephalopathy phenotype:
(1) normocephaly
(2) seizures absent or not a prominent feature
(3) normal EEG
(4) normal brain MRI
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