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Medical condition/treatment

Timothy syndrome

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Timothy syndrome is a rare genetic disorder that causes cardiac arrhythmias, developmental delays, intellectual impairments and distinctive facial features. It is caused by mutations in the CACNA1C gene.

Causes/Description:

Timothy syndrome is a genetic disorder caused by mutations in the CACNA1C gene. The exact cause of these mutations is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.

Timothy syndrome

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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Verhaltensmanagement, Psychosoziale Unterstützung, Medikamentöse Therapie, Genetische Beratung, Ernährungsmanagement

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Timothy syndrome is caused by mutations in the CACNA1C gene, which is important for regulating calcium channels in the heart and brain. These mutations lead to irregular calcium regulation, which causes the symptoms of the disorder.

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- Early diagnosis and intervention<br>- Early intervention and developmental therapy<br>- Supported communication therapy<br>- Physiotherapy to promote mobility<br>- Family counseling and support

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Timothy syndrome was first described in 2004 by G. Splawski et al. described. A mutation in the CACNA1C gene was identified as the main cause. The main features are cardiac arrhythmias, developmental delays and characteristic facial features. Treatment focuses on managing symptoms and supporting cardiovascular health.