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Medical condition/treatment

Rett syndrome

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Rett syndrome is a genetic disorder that primarily affects girls and causes developmental delays, loss of speech and hand skills, motor problems, and other neurological and psychological impairments. It is caused by a mutation in the MECP2 gene.

Causes/Description:

Rett syndrome is a genetic disorder that primarily affects girls and is caused by mutations in the MECP2 gene. The exact cause of these mutations is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.

Rett syndrome

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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Familientherapie, Sozialkompetenztraining, Selbsthilfegruppen

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Rett syndrome is caused by mutations in the MECP2 gene on the X chromosome. Most cases are sporadic and occur randomly, although the risk is higher if a close relative is already affected.

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- Early intervention and early support - Supported communication therapy - Physiotherapy to maintain mobility - Control of seizure disorders - Family training and advice

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Rett syndrome was first described by Andreas Rett in 1966. In 1999, the MECP2 gene was identified as the main cause. Research and development of therapies to treat Rett syndrome are ongoing.

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