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About BRESEK syndrome

What is BRESEK syndrome?

BRESEK syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme lysyl oxidase-like 1 (LOXL1). Symptoms of BRESEK syndrome include intellectual disability, seizures, hearing loss, vision problems, and skeletal abnormalities.

What are the symptoms of BRESEK syndrome?

The symptoms of BRESEK syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Cleft lip and/or palate
-Gastrointestinal problems
-Skin abnormalities
-Behavioral problems

What are the causes of BRESEK syndrome?

The exact cause of BRESEK syndrome is unknown. However, it is believed to be caused by a genetic mutation in the BRCA2 gene, which is responsible for producing a protein that helps repair damaged DNA. Mutations in this gene can lead to an increased risk of developing certain types of cancer, as well as other health problems.

What are the treatments for BRESEK syndrome?

The treatments for BRESEK syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage symptoms. Surgery may be recommended in some cases to correct physical deformities or to improve mobility. Other treatments may include orthotics, braces, and assistive devices. Additionally, lifestyle modifications such as diet and exercise may be recommended to help manage symptoms.

What are the risk factors for BRESEK syndrome?

The primary risk factor for BRESEK syndrome is having a family history of the disorder. Other risk factors include having a parent with a genetic mutation associated with the disorder, being of Ashkenazi Jewish descent, and having a parent with a history of consanguinity (marriage between close relatives).

Is there a cure/medications for BRESEK syndrome?

At this time, there is no known cure for BRESEK 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. Additionally, physical and occupational therapy can help improve mobility and coordination.