Movement disorders in Rett
Serviço de Pediatria, Hospital Geral de Santo
António, Porto, Portugal
Rett syndrome (RS) was discovered by Andreas Rett,
a Viennese paediatrician, when he noticed that two girls
who were waiting for his consultation presented the
same movement disorder: hand stereotypies.
In 1966 he published the data of 22 girls with progressive
cerebral atrophy, stereotyped hand movements, dementia,
alalia, gait apraxia and a tendency to epileptic attacks.
This disorder was named Rett’s syndrome in 1983
by Bent Hagberg, Jean Aicardi, Karin Dias and Ramos,
who studied 35 female patients from Sweden, France and
Portugal and emphasized autistic behaviour, acquired
microcephaly, jerky truncal ataxia, and vasomotor disturbance.
Diagnostic criteria for this syndrome were further defined
in 1988. It took more than 30 years after the discovery
of the syndrome by Andreas Rett to determine the genetic
basis of RS – the mutations in methyl-CpG-binding
protein 2 (MECP2)- largely because the disease is primarily
sporadic in nature and because familial cases are rare.
Among necessary and supportive diagnostic criteria of
RS are some movement disorders such as dystonia, stereotyped
hand movements and gait apraxia. However, other movement
disorders can be present and are less well described
as stereotyped truncal, head or inferior limb movements,
tremor, chorea, myoclonus, rigidity and gait abnormalities.
I will present the data of 66 Portuguese patients who
fulfil the revised diagnostic criteria for R S.
The age of the patients at my observation was between
1.5 year and 32 years (61% classical forms; 64/66 with
DNA study; 61% with MECP2 mutations). All the patients
were videotaped. The videos of these patients will be
shown to illustrate the spectrum of movement disorders