About Eng-Strom syndrome

What is Eng-Strom syndrome?

Eng-Strom syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the ENG gene, which is responsible for the production of a protein called endoglin. Symptoms of Eng-Strom syndrome include intellectual disability, developmental delays, seizures, hearing loss, vision problems, and skeletal abnormalities. Treatment typically involves physical, occupational, and speech therapy, as well as medications to control seizures and other symptoms.

What are the symptoms of Eng-Strom syndrome?

Eng-Strom syndrome is a rare genetic disorder that affects the nervous system. Symptoms of Eng-Strom syndrome can vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Seizures
-Movement disorders
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Speech delays
-Behavioral issues
-Sleep disturbances
-Muscle weakness
-Joint stiffness
-Scoliosis
-Heart defects
-Kidney problems

What are the causes of Eng-Strom syndrome?

Eng-Strom syndrome is a rare genetic disorder caused by a mutation in the GATA2 gene. This gene is responsible for producing a protein that helps regulate the development of certain cells in the body. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.

What are the treatments for Eng-Strom syndrome?

The treatments for Eng-Strom syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, medications to control seizures, and surgery to correct any physical deformities. In some cases, a feeding tube may be necessary to ensure adequate nutrition. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

What are the risk factors for Eng-Strom syndrome?

The primary risk factor for Eng-Strom syndrome is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, being a male, and having a mutation in the GATA2 gene.

Is there a cure/medications for Eng-Strom syndrome?

At this time, there is no cure for Eng-Strom Syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to help control seizures, muscle relaxants, and medications to help with sleep disturbances. Additionally, physical and occupational therapy can help improve mobility and coordination.