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Medical condition/treatment

Angelman syndrome

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Angelman syndrome is a genetic disorder that causes developmental delays, motor problems, epileptic seizures, and a unique personality characterized by excessive laughter and a strong enthusiasm for water.

Causes/Description:

Angelman syndrome is a genetic disorder caused by mutations or deletions in the UBE3A gene. The exact cause of these genetic changes is unknown, but they may be due to spontaneous mutations. Some factors that may play a role include genetics, environmental factors, and neural wiring disorders.

Angelman syndrome

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Physiotherapie, Ergotherapie, Frühintervention, Entwicklungsförderung, Logopädie, Verhaltensmanagement, Genetische Beratung, Familienberatung, Krankheitsmanagement, Schlafstörungsbehandlung

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Angelman syndrome is caused by mutations or deletions in the UBE3A gene on chromosome 15. In most cases, the disorder is caused by a deletion of paternal chromosome 15 or by a mutation in the paternal UBE3A gene.

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- Early intervention and developmental therapy - Speech and communication therapy - Behavioral therapy for self-regulation - Supported employment and life skills - Family counseling and support

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Angelman syndrome was first described by Harry Angelman in 1965. It is a genetic disorder caused by mutations in the UBE3A gene on chromosome 15. Symptoms include developmental delays, difficulty speaking, seizure disorder, and a characteristic cheerful personality. Treatment focuses on managing symptoms and supporting development.

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