Juberg–Marsidi syndrome

Juberg–Marsidi syndrome is a rare X-linked recessive genetic disorder that primarily affects males. It is characterized by severe intellectual disability, epilepsy, hypotonia (low muscle tone), and distinctive facial features. The syndrome was first described by Dr. Richard C. Juberg and Dr. Ahmad Marsidi in 1980.

Symptoms and Signs

The symptoms of Juberg–Marsidi syndrome typically become apparent in infancy. The most common symptoms include severe intellectual disability, which affects the ability to learn and communicate, and epilepsy, which can cause recurrent seizures. Other symptoms can include hypotonia, which can lead to difficulties with movement and coordination, and distinctive facial features, such as a prominent forehead, wide-set eyes, and a thin upper lip.

Causes

Juberg–Marsidi syndrome is caused by mutations in the BCS1L gene, which is located on the X chromosome. This gene provides instructions for making a protein that is involved in the production of adenosine triphosphate (ATP), the main energy source for cells. Mutations in the BCS1L gene disrupt the production of ATP, leading to the symptoms of Juberg–Marsidi syndrome.

Diagnosis

The diagnosis of Juberg–Marsidi syndrome is based on the presence of characteristic symptoms and a family history of the disorder. Genetic testing can confirm the diagnosis by identifying a mutation in the BCS1L gene.

Treatment

There is currently no cure for Juberg–Marsidi syndrome. Treatment is supportive and focuses on managing the symptoms of the disorder. This can include medications to control seizures, physical therapy to improve muscle tone, and special education services to support intellectual development.

Prognosis

The prognosis for individuals with Juberg–Marsidi syndrome varies. Some individuals may have a relatively mild form of the disorder, while others may have severe symptoms that significantly affect their quality of life. The disorder is typically progressive, meaning that symptoms tend to worsen over time.

See Also

• List of genetic disorders
• X-linked recessive inheritance
• BCS1L

NIH genetic and rare disease info

• NIH info on Juberg–Marsidi syndrome

Juberg–Marsidi syndrome is a rare disease.

Juberg–Marsidi syndrome Resources
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