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Medical condition/treatment
Joubert syndrome
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Hole body
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Joubert syndrome is a genetic disorder that causes abnormalities in the brain and can lead to developmental delays, motor problems, eye movement disorders and breathing problems. It mainly affects cerebellar development.
Causes/Description:
Joubert syndrome is a rare genetic disorder characterized by a malformation of the cerebellum. The exact cause of Joubert syndrome is unknown, but genetics plays a role. Other factors may include environmental factors and neural wiring disorders.
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Physiotherapie, Ergotherapie, Logopädie, Frühintervention, Entwicklungsförderung, Verhaltensmanagement, Neurologische Betreuung, Psychosoziale Unterstützung, Genetische Beratung, Augenärztliche Betreuung
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Joubert syndrome is caused by mutations in several genes involved in cilia development and function. These gene mutations affect the structure and function of the cilia and lead to the symptoms of the disorder.
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- Early diagnosis and early intervention<br>- Neurological therapies and support<br>- Developmental therapy and social skills training<br>- Pedagogical and specialized educational plans<br>- Support through genetic counseling and care
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Joubert syndrome was first described in 1968. It is caused by mutations in multiple genes and is characterized by characteristic brainstem abnormalities. Symptoms include breathing problems, developmental delays and eye movement problems. Treatment focuses on managing symptoms and supporting development.
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