CLN4B is a rare, inherited neurological disorder caused by mutations in the CLN4B gene. It is characterized by progressive vision loss, intellectual disability, seizures, and movement problems. It is part of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs).

CLN4B is a rare, inherited form of Batten disease, a type of neurodegenerative disorder. Symptoms of CLN4B typically begin in early childhood and may include seizures, vision loss, difficulty speaking, difficulty walking, and dementia. Other symptoms may include muscle weakness, difficulty swallowing, and behavioral changes.

CLN4B is a rare genetic disorder caused by mutations in the CLN4B gene. The CLN4B gene provides instructions for making a protein called CLN4B, which is involved in the transport of lipids (fats) within cells. Mutations in the CLN4B gene lead to the production of an abnormal CLN4B protein, which disrupts the transport of lipids and causes a buildup of lipids in cells. This buildup of lipids leads to the signs and symptoms of CLN4B disease.

Currently, there is no known cure for CLN4B disease. Treatment focuses on managing symptoms and slowing the progression of the disease. Treatment options may include physical therapy, occupational therapy, speech therapy, nutritional support, medications to reduce seizures, and medications to reduce spasticity. Additionally, genetic counseling may be recommended for families affected by CLN4B disease.

The primary risk factor for CLN4B disease is having a family history of the condition. Other risk factors include being of Ashkenazi Jewish descent, having a mutation in the CLN4B gene, and having a mutation in the CLN4A gene.

At this time, there is no known cure or medications for CLN4B disease. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and nutritional support.