About MAGEL2-related Prader-Willi-like syndrome

What is MAGEL2-related Prader-Willi-like syndrome?

MAGEL2-related Prader-Willi-like syndrome is a rare genetic disorder caused by a mutation in the MAGEL2 gene. It is characterized by a range of physical and behavioral features similar to those seen in Prader-Willi syndrome, including obesity, intellectual disability, delayed motor development, and behavioral problems.

What are the symptoms of MAGEL2-related Prader-Willi-like syndrome?

The symptoms of MAGEL2-related Prader-Willi-like syndrome can vary from person to person, but may include:

Poor muscle tone (hypotonia)
• Feeding difficulties
• Delayed development
• Intellectual disability
• Behavioral problems
• Sleep disturbances
• Short stature
• Obesity
• Hypogonadism
• Small hands and feet
• Strabismus (crossed eyes)
Scoliosis (curvature of the spine)
• Abnormal facial features, such as a narrow forehead, almond-shaped eyes, and a thin upper lip
• Seizures

What are the causes of MAGEL2-related Prader-Willi-like syndrome?

The cause of MAGEL2-related Prader-Willi-like syndrome is a mutation in the MAGEL2 gene. This gene is responsible for producing a protein that helps regulate the activity of certain genes in the brain. Mutations in this gene can lead to a range of neurological and developmental problems, including Prader-Willi-like syndrome.

What are the risk factors for MAGEL2-related Prader-Willi-like syndrome?

1. Mutation in the MAGEL2 gene
2. Family history of Prader-Willi-like syndrome
3. Maternal uniparental disomy of chromosome 15
4. Imprinting defects of chromosome 15
5. Maternal advanced maternal age
6. Advanced paternal age
7. Maternal diabetes
8. Maternal obesity
9. Maternal smoking
10. Maternal alcohol consumption

Is there a cure/medications for MAGEL2-related Prader-Willi-like syndrome?

At this time, there is no cure for MAGEL2-related Prader-Willi-like syndrome. However, there are medications and treatments available to help manage the symptoms. These include growth hormone therapy, medications to help with sleep disturbances, and medications to help with behavioral issues. Additionally, physical, occupational, and speech therapy can help with motor and communication skills.