Knowra Rett syndrome Rett syndrome Rett syndrome is a genetic neurodevelopmental disorder, usually caused by pathogenic variants in MECP2. After early development, it commonly brings regression in communication, movement, and purposeful hand use.
MECP2 : MECP2 is a gene encoding a protein that binds methylated DNA and helps regulate gene expression, especially in the nervous system. Pathogenic variants in this gene account for most classic Rett syndrome cases.
Hand stereotypies : Hand stereotypies are repetitive, patterned hand movements that occur without an obvious practical purpose. Hand wringing, washing, or tapping movements commonly replace purposeful hand use.
Augmentative and alternative communication : Augmentative and alternative communication comprises methods and tools that support communication without relying solely on speech. Eye-gaze systems and other AAC tools can preserve communication when spoken language is limited.
Angelman syndrome : Angelman syndrome is a genetic neurodevelopmental disorder commonly involving severe speech impairment, movement differences, and seizures. It can resemble Rett syndrome clinically but usually arises from altered UBE3A function.
Andreas Rett : Andreas Rett was an Austrian pediatrician who described a distinctive pattern of childhood regression and hand movements. His 1966 report provided the first published clinical description of the syndrome.
Methyl-CpG-binding protein 2 : Methyl-CpG-binding protein 2 is a chromatin-associated protein encoded by MECP2 that influences transcription and neuronal function. The protein’s altered function links MECP2 variants to widespread effects in the developing brain.
Loss of speech : Loss of speech is a decline or disappearance of previously acquired spoken-language abilities. Spoken communication often diminishes during the regression phase of Rett syndrome.
Physical therapy : Physical therapy uses movement, exercise, and physical methods to support mobility and function. Therapy can help maintain mobility, posture, and joint range as motor difficulties progress.
CDKL5 deficiency disorder : CDKL5 deficiency disorder is a developmental and epileptic encephalopathy caused by pathogenic variants in CDKL5. It shares developmental impairment and stereotypies but often features seizures beginning in infancy.
Bengt Hagberg : Bengt Hagberg was a Swedish neurologist who helped establish Rett syndrome as a distinct clinical diagnosis. His 1983 international report brought the condition to wider medical attention.
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