About Curry-Jones syndrome

What is Curry-Jones syndrome?

Curry-Jones syndrome is a rare genetic disorder characterized by a combination of physical and mental abnormalities. It is caused by a mutation in the gene encoding the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Curry-Jones syndrome include intellectual disability, seizures, facial dysmorphism, skeletal abnormalities, and growth retardation.

What are the symptoms of Curry-Jones syndrome?

The symptoms of Curry-Jones syndrome include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Heart defects
-Abnormalities of the hands and feet
-Abnormalities of the face and skull
-Abnormalities of the kidneys and urinary tract
-Abnormalities of the gastrointestinal tract
-Abnormalities of the skin and hair

What are the causes of Curry-Jones syndrome?

Curry-Jones syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A (FLNA). This mutation results in a disruption of the normal development of the brain, heart, and other organs. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.

What are the treatments for Curry-Jones syndrome?

Currently, there is no known cure for Curry-Jones 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 with muscle spasms, seizures, 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 Curry-Jones syndrome.

What are the risk factors for Curry-Jones syndrome?

The primary risk factor for Curry-Jones 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 African-American descent, and having a history of consanguinity (being related to one's partner).

Is there a cure/medications for Curry-Jones syndrome?

Unfortunately, there is no known cure or medications for Curry-Jones syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help improve the patient's quality of life.