Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is a rare genetic disorder characterized by a combination of neurological and respiratory problems. It is caused by a mutation in the gene encoding the protein known as the Joubert Syndrome Protein (JSP). Symptoms of JATD include abnormal eye movements, breathing difficulties, and intellectual disability. In some cases, affected individuals may also have kidney and liver problems. Treatment is supportive and may include physical therapy, respiratory support, and medications to help manage symptoms.

The symptoms of Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) vary from person to person, but may include:

-Developmental delay

-Poor muscle tone

-Abnormal breathing patterns

-Lack of coordination

-Abnormal eye movements

-Abnormal facial features

-Kidney abnormalities

-Liver abnormalities

-Abnormalities of the spine

-Heart defects

-Intellectual disability

-Seizures

-Hearing loss

-Vision problems

-Feeding difficulties

-Sleep disturbances

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is a rare genetic disorder caused by mutations in the gene encoding the protein known as the Joubert Syndrome Associated Protein 1 (JSRP1). Mutations in this gene can lead to a wide range of neurological and physical symptoms, including hypotonia, ataxia, abnormal breathing patterns, and kidney and liver abnormalities. JATD is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated in order for the disorder to be present.

The treatments for Joubert syndrome with Jeune asphyxiating thoracic dystrophy vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, respiratory therapy, and nutritional support. Surgery may be necessary to correct any anatomical abnormalities, such as a tracheostomy to help with breathing. Medications may be prescribed to help with seizures, muscle spasms, and other symptoms. In some cases, a ventilator may be necessary to help with breathing. Genetic counseling may also be recommended.

1. Genetic mutation in the INPP5E gene
2. Family history of Joubert syndrome or Jeune asphyxiating thoracic dystrophy
3. Maternal diabetes
4. Maternal obesity
5. Maternal use of certain medications during pregnancy
6. Maternal exposure to certain environmental toxins during pregnancy
7. Maternal age over 35 years old

There is no cure for Joubert syndrome with Jeune asphyxiating thoracic dystrophy. However, there are medications and treatments that can help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, respiratory therapy, and medications to help with breathing, seizures, and other symptoms.