Late infantile CACH syndrome (also known as CLN2 disease) is a rare, inherited, neurodegenerative disorder that affects the nervous system. It is caused by a mutation in the TPP1 gene, which is responsible for producing the enzyme tripeptidyl peptidase 1. Symptoms typically begin to appear between the ages of two and four and include seizures, vision loss, intellectual disability, and muscle weakness. As the disease progresses, affected individuals may experience difficulty walking, speaking, and swallowing. There is currently no cure for late infantile CACH syndrome, but treatments are available to help manage symptoms and slow the progression of the disease.

The symptoms of Late Infantile CACH Syndrome include:

-Delayed development
-Intellectual disability
-Seizures
-Abnormal movements
-Poor muscle tone
-Feeding difficulties
-Vision and hearing problems
-Growth delays
-Behavioral problems
-Sleep disturbances
-Skin abnormalities
-Organ dysfunction

Late infantile CACH syndrome is caused by mutations in the CLN2 gene, which is responsible for producing the enzyme tripeptidyl peptidase 1 (TPP1). Mutations in this gene lead to a deficiency of TPP1, which is necessary for the normal breakdown of certain proteins in the body. This deficiency leads to the accumulation of these proteins in the brain, resulting in the symptoms of Late infantile CACH syndrome.

The primary treatment for Late Infantile CACH Syndrome is enzyme replacement therapy (ERT). This involves intravenous infusions of the missing enzyme, which helps to reduce the symptoms of the disorder. Other treatments may include physical therapy, occupational therapy, speech therapy, and nutritional support. In some cases, medications may be prescribed to help manage seizures or other symptoms.

1. Genetic mutation in the CLN2 gene
2. Family history of Late infantile CACH syndrome
3. Age (Late infantile CACH syndrome typically presents between 2 and 4 years of age)
4. Gender (Late infantile CACH syndrome is more common in males)
5. Ethnicity (Late infantile CACH syndrome is more common in individuals of Ashkenazi Jewish descent)

Unfortunately, there is no cure for Late Infantile CACH Syndrome. However, there are medications that can help manage the symptoms of the condition. These include anticonvulsants, muscle relaxants, and medications to help with sleep and behavior. Physical and occupational therapy can also help improve mobility and quality of life.