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Joubert syndrome is more likely to occur in consanguineous families, where the parents are related, and where the faulty gene runs in the family. When both parents carry the recessive gene, there is a one-in-four risk in each pregnancy that the child will have the syndrome. Joubert syndrome is caused by changes in a gene on chromosome 9. These changes affect development of certain parts of the brain including the cerebellar vermis and brain stem. Symptoms of joubert syndrome include abnormal breathing patterns (hyperpnea), kidney abnormalities and a characteristic facial appearance. Treatment for Joubert syndrome is symptomatic and supportive. Cognitive and physical development is delayed in Joubert syndrome. Occupational therapy use of self-care, work and play activities to increase function.
Causes of Joubert Syndrome
Common Causes and Risk factors of Joubert Syndrome
- Gene on chromosome 9.
- Cerebellum.
- Autosomal recessive.
- Oligophrenia.
- Congenital ataxia.
- Hepatic fibrosis syndrome.
Signs and Symptoms of Joubert Syndrome
Common Sign and Symptoms of Joubert Syndrome
- Tongue abnormalities.
- Seizures.
- Balance problems.
- Apnea.
- Dysmetria.
- Hypermetria.
Treatment for Joubert Syndrome
Common Treatment for Joubert Syndrome
- Physical therapy.
- Symptomatic and supportive therapy.
- Occupational therapy.
- Speech therapy.
- Respiratory monitoring.
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