About Galloway-Mowat Syndrome

What is Galloway-Mowat Syndrome?

Galloway-Mowat Syndrome (GMS) is a rare genetic disorder characterized by intellectual disability, seizures, and progressive kidney failure. It is caused by a mutation in the WDR35 gene. Symptoms can vary from person to person, but may include developmental delays, intellectual disability, seizures, poor muscle tone, and progressive kidney failure. Treatment typically involves managing the symptoms and providing supportive care.

What are the symptoms of Galloway-Mowat Syndrome?

The symptoms of Galloway-Mowat Syndrome vary from person to person, but the most common symptoms include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Kidney abnormalities
-Abnormal facial features
-Abnormalities of the hands and feet
-Behavioral problems
-Sleep disturbances

What are the causes of Galloway-Mowat Syndrome?

Galloway-Mowat Syndrome is a rare genetic disorder caused by a mutation in the ARL6IP5 gene. This gene is responsible for the production of a protein called ARL6IP5, which is involved in the development of the nervous system. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

What are the treatments for Galloway-Mowat Syndrome?

Currently, there is no known cure for Galloway-Mowat Syndrome. Treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and nutritional support. Medications may also be prescribed to help manage seizures, breathing difficulties, and other symptoms. In some cases, surgery may be recommended to help improve breathing or to correct any structural abnormalities.

What are the risk factors for Galloway-Mowat Syndrome?

The exact cause of Galloway-Mowat Syndrome is unknown, but there are some risk factors that may increase the likelihood of developing the condition. These include:

• Having a family history of the condition
• Being of Caucasian descent
• Being male
• Having a mutation in the WDR45 gene
• Having a mutation in the GAN gene
• Having a mutation in the PEX7 gene

Is there a cure/medications for Galloway-Mowat Syndrome?

At this time, there is no cure for Galloway-Mowat Syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to help control seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy can help improve mobility and quality of life.