Childhood-onset spasticity with hyperglycinemia is a rare genetic disorder characterized by spasticity (stiffness and difficulty with movement) that begins in early childhood, along with elevated levels of glycine in the blood. Symptoms may include muscle stiffness, difficulty walking, seizures, and intellectual disability. Treatment typically involves physical therapy, medications, and dietary modifications.

The symptoms of Childhood-onset Spasticity with hyperglycinemia vary from person to person, but may include:

-Delayed development
-Muscle Stiffness and spasms
-Difficulty walking
-Difficulty speaking
-Difficulty swallowing
-Seizures
-Intellectual disability
-Behavioral problems
-Feeding difficulties
-Growth delays
-Hyperactivity
-Sleep disturbances
-Abnormal movements
-Abnormal breathing patterns
-Abnormal eye movements
-Abnormal EEG patterns
-Elevated levels of glycine in the blood and urine

The most common cause of childhood-onset spasticity with hyperglycinemia is a genetic disorder called Glycine encephalopathy, also known as Non-Ketotic Hyperglycinemia (NKH). This disorder is caused by a mutation in the GLDC gene, which is responsible for the production of an enzyme called glycine decarboxylase. This enzyme is responsible for breaking down the amino acid glycine, which is found in many foods. When the enzyme is not functioning properly, glycine builds up in the body, leading to spasticity and other neurological symptoms. Other causes of childhood-onset spasticity with hyperglycinemia include metabolic disorders, such as urea cycle disorders, and certain genetic disorders, such as Lesch-Nyhan syndrome.

1. Dietary management: A low-glycine diet is recommended to reduce the amount of glycine in the body.

2. Medication: Medications such as baclofen, diazepam, and dantrolene can be used to reduce spasticity.

3. Physical therapy: Physical therapy can help improve muscle strength and range of motion.

4. Surgery: Surgery may be recommended in some cases to reduce spasticity.

5. Botox injections: Botox injections can be used to reduce spasticity in certain muscles.

6. Stem cell therapy: Stem cell therapy is being studied as a potential treatment for spasticity.

1. Genetic mutations in the GLDC gene, which is responsible for the production of glycine cleavage enzyme.
2. Low birth weight.
3. Premature birth.
4. Exposure to certain medications or toxins during pregnancy.
5. Exposure to certain infections during pregnancy.
6. Family history of the disorder.

There is no cure for Childhood-onset spasticity with hyperglycinemia, but there are medications that can help manage the symptoms. These medications include baclofen, diazepam, tizanidine, and dantrolene. Additionally, physical and occupational therapy can help improve muscle strength and coordination.