Cardiomyopathy-hypotonia-lactic acidosis syndrome (CHLAS) is a rare genetic disorder characterized by a combination of heart muscle disease (cardiomyopathy), low muscle tone (hypotonia), and an accumulation of lactic acid in the body (lactic acidosis). It is caused by mutations in the SLC25A13 gene, which is responsible for the production of a protein involved in energy production in cells. Symptoms of CHLAS can include heart failure, breathing difficulties, poor feeding, and developmental delays. Treatment typically involves managing the symptoms and may include medications, dietary changes, and physical therapy.

The symptoms of Cardiomyopathy-hypotonia-lactic acidosis syndrome vary depending on the severity of the condition, but may include:

• Weakness and Hypotonia (low muscle tone)
• Poor feeding
• Difficulty breathing
• Heart murmurs
• Abnormal heart rhythms
• Cardiomegaly (enlarged heart)
• Low blood pressure
• Fatigue
• Poor growth
• Developmental delays
• Seizures
• Lactic acidosis (high levels of lactic acid in the blood)
• Abnormal liver function tests
• Abnormal kidney function tests
• Abnormal blood clotting tests

Cardiomyopathy-hypotonia-lactic acidosis syndrome (CHLAS) is a rare genetic disorder caused by mutations in the gene encoding the enzyme glycogen synthase kinase 3 beta (GSK3B). Mutations in this gene can lead to a variety of symptoms, including cardiomyopathy (enlargement of the heart muscle), hypotonia (low muscle tone), and lactic acidosis (buildup of lactic acid in the body). Other causes of CHLAS may include genetic mutations in other genes, such as those involved in energy metabolism, and environmental factors, such as exposure to certain toxins.

1. Medications: Medications such as ACE inhibitors, beta blockers, and diuretics may be prescribed to help reduce the symptoms of cardiomyopathy-hypotonia-lactic acidosis syndrome.

2. Dietary Changes: Eating a healthy diet and avoiding foods that are high in sodium can help reduce the symptoms of cardiomyopathy-hypotonia-lactic acidosis syndrome.

3. Exercise: Regular exercise can help improve the symptoms of cardiomyopathy-hypotonia-lactic acidosis syndrome.

4. Surgery: In some cases, surgery may be necessary to repair any structural abnormalities in the heart.

5. Oxygen Therapy: Oxygen therapy may be used to help improve the symptoms of cardiomyopathy-hypotonia-lactic acidosis syndrome.

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1. Genetic mutations: Mutations in the genes encoding for the proteins involved in the metabolism of fatty acids, amino acids, and carbohydrates can lead to cardiomyopathy-hypotonia-lactic acidosis syndrome.

2. Environmental factors: Exposure to certain environmental toxins, such as lead, can increase the risk of developing cardiomyopathy-hypotonia-lactic acidosis syndrome.

3. Infections: Certain infections, such as cytomegalovirus, can increase the risk of developing cardiomyopathy-hypotonia-lactic acidosis syndrome.

4. Metabolic disorders: Metabolic disorders, such as mitochondrial disorders, can increase the risk of developing cardiomyopathy-hypotonia-lactic acidosis syndrome.

5. Nutritional deficiencies: Nutritional deficiencies, such as

Unfortunately, there is no known cure for Cardiomyopathy-hypotonia-lactic acidosis syndrome. However, there are medications that can help manage the symptoms of the condition. These medications include diuretics, ACE inhibitors, beta blockers, and calcium channel blockers. Additionally, lifestyle modifications such as avoiding strenuous activities, eating a healthy diet, and avoiding alcohol and smoking can help improve symptoms.