Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare genetic disorder caused by mutations in the GRID2 gene. It is characterized by a lack of coordination and balance (ataxia) that is present from birth (congenital). Affected individuals may also have intellectual disability, seizures, and/or vision problems. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The symptoms of Autosomal recessive congenital cerebellar Ataxia due to GRID2 deficiency can vary from person to person, but may include:

-Delayed motor development
-Poor coordination
-Tremor
-Slurred speech
-Difficulty walking
-Abnormal gait
-Impaired balance
-Difficulty with fine motor skills
-Intellectual disability
-Seizures
-Abnormal eye movements
-Abnormal reflexes
-Abnormal muscle tone
-Abnormal posture
-Abnormal breathing patterns
-Abnormal swallowing patterns
-Abnormal sleep patterns
-Behavioral problems

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is caused by mutations in the GRID2 gene. This gene provides instructions for making a protein called glutamate receptor interacting protein 2 (GRIP2). This protein is involved in the development and function of the cerebellum, a part of the brain that is important for movement coordination. Mutations in the GRID2 gene lead to a shortage of the GRIP2 protein, which disrupts the development and function of the cerebellum and causes the signs and symptoms of autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency.

1. Physical therapy: Physical therapy can help improve balance, coordination, and strength.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and writing.

3. Speech therapy: Speech therapy can help with communication and swallowing difficulties.

4. Medications: Medications can help reduce symptoms such as tremor, muscle spasms, and seizures.

5. Surgery: Surgery may be recommended to correct any structural abnormalities in the brain or spinal cord.

6. Gene therapy: Gene therapy is a promising new treatment option for GRID2 deficiency. It involves introducing a healthy copy of the GRID2 gene into the body to replace the defective gene.

1. Family history of Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
2. Being of Ashkenazi Jewish descent
3. Having a mutation in the GRID2 gene
4. Being exposed to certain environmental toxins or radiation

At this time, there is no known cure for autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency. However, there are medications that can help manage the symptoms of the condition. These include medications to help control muscle spasms, medications to help improve coordination and balance, and medications to help reduce anxiety and depression. Additionally, physical and occupational therapy can help improve coordination and balance.