About Mononen-Karnes-Senac syndrome

What is Mononen-Karnes-Senac syndrome?

Mononen-Karnes-Senac syndrome (MKSS) is a rare genetic disorder characterized by intellectual disability, seizures, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein CACNA1A, which is involved in calcium signaling in the brain. Symptoms of MKSS can include developmental delay, intellectual disability, seizures, facial dysmorphism, and movement disorders.

What are the symptoms of Mononen-Karnes-Senac syndrome?

The symptoms of Mononen-Karnes-Senac syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Abnormalities of the hands and feet
-Kidney problems
-Gastrointestinal issues
-Skin abnormalities
-Behavioral issues

What are the causes of Mononen-Karnes-Senac syndrome?

Mononen-Karnes-Senac syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation results in a deficiency of the protein, which is responsible for maintaining the structure of cells and tissues. 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 Mononen-Karnes-Senac syndrome?

Currently, there is no known cure for Mononen-Karnes-Senac syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, muscle spasms, and other symptoms. Surgery may be recommended to correct any physical deformities or to help improve mobility. Additionally, genetic counseling may be recommended for families affected by the condition.

What are the risk factors for Mononen-Karnes-Senac syndrome?

1. Genetic mutation in the MKKS gene
2. Family history of Mononen-Karnes-Senac syndrome
3. Being of Ashkenazi Jewish descent
4. Being female
5. Being of advanced age

Is there a cure/medications for Mononen-Karnes-Senac syndrome?

At this time, there is no known cure or specific medications for Mononen-Karnes-Senac syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, pain, and other symptoms.