Rett Syndrome: Long-Term Clinical Follow-Up Experiences
Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly well-preserved eye contact and primitive memory, in contrast to a premature neuromuscular aging and often advanced peripheral atrophy, usually combined with dystonic-rigid signs that are predominantly right sided.
Rett syndrome is a remarkable, clinically defined, and severely disabling condition predominantly affecting young girls, most of whom are aged l to l.5 years old and are originally regarded as healthy, with normal development. From the 1960s to the 1980s, Rett syndrome was suspected to be caused by a neurometabolic disaster that was of an undefined type. Today we know that Rett syndrome is a genetic neurodevelopmental condition and that, in its classic form, it is due to a large and complex battery of many different mutations of the MECP2 gene at the distal tip of the long arm of the X-chromosome, Xq28, a finding first skillfully demonstrated by Professor Huda Zoghbi late in 1999.
The clinical course of Rett syndrome differs a great deal among patients, ranging from quite mild and fragmentary (eg, in girls with forme fruste Rett syndrome) to very severe in the form of small and extremely disabled adults with Rett syndrome, who are frequently found to be immobile and rigidly frozen. This article presents personal experience over four decades exemplified by three Swedish female patients with classic Rett syndrome, one still walking (stage III) and two walking only with support before the regression period (stage IVB). In a companion article, our present tentative Göteborg concept is given for the relationship between the clinical Rett syndrome condition and the much broader and more heterogeneous MECP2 mutation group of various phenotypes.
Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly well-preserved eye contact and primitive memory, in contrast to a premature neuromuscular aging and often advanced peripheral atrophy, usually combined with dystonic-rigid signs that are predominantly right sided.
Rett syndrome is a remarkable, clinically defined, and severely disabling condition predominantly affecting young girls, most of whom are aged l to l.5 years old and are originally regarded as healthy, with normal development. From the 1960s to the 1980s, Rett syndrome was suspected to be caused by a neurometabolic disaster that was of an undefined type. Today we know that Rett syndrome is a genetic neurodevelopmental condition and that, in its classic form, it is due to a large and complex battery of many different mutations of the MECP2 gene at the distal tip of the long arm of the X-chromosome, Xq28, a finding first skillfully demonstrated by Professor Huda Zoghbi late in 1999.
The clinical course of Rett syndrome differs a great deal among patients, ranging from quite mild and fragmentary (eg, in girls with forme fruste Rett syndrome) to very severe in the form of small and extremely disabled adults with Rett syndrome, who are frequently found to be immobile and rigidly frozen. This article presents personal experience over four decades exemplified by three Swedish female patients with classic Rett syndrome, one still walking (stage III) and two walking only with support before the regression period (stage IVB). In a companion article, our present tentative Göteborg concept is given for the relationship between the clinical Rett syndrome condition and the much broader and more heterogeneous MECP2 mutation group of various phenotypes.
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