Movement disorders in Rett Syndrome

Teresa Temudo
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 in RS.