About Hereditary myopathy with lactic acidosis due to ISCU deficiency

What is Hereditary myopathy with lactic acidosis due to ISCU deficiency?

Hereditary myopathy with lactic acidosis due to ISCU deficiency is a rare genetic disorder caused by a mutation in the ISCU gene. This gene is responsible for producing an enzyme called iron-sulfur cluster assembly enzyme (ISCU). People with this disorder have difficulty producing energy in their cells, leading to muscle weakness and lactic acidosis (an accumulation of lactic acid in the body). Symptoms usually begin in childhood and can include muscle weakness, fatigue, exercise intolerance, and difficulty breathing. Treatment typically involves dietary modifications, physical therapy, and medications to reduce lactic acid levels.

What are the symptoms of Hereditary myopathy with lactic acidosis due to ISCU deficiency?

The symptoms of Hereditary myopathy with lactic acidosis due to ISCU deficiency can vary from person to person, but may include:

-Muscle weakness, especially in the arms and legs
-Muscle pain
-Muscle cramps
-Difficulty walking
-Fatigue
-Exercise intolerance
-Difficulty breathing
-Lactic acidosis (high levels of lactic acid in the blood)
-Growth delays
-Developmental delays
-Delayed motor skills
-Impaired speech
-Impaired vision
-Impaired hearing
-Seizures
-Heart arrhythmias
-Gastrointestinal problems
-Feeding difficulties
-Hypoglycemia (low blood sugar)
-Hypotonia (low muscle tone)
-Scoliosis (curvature of

What are the causes of Hereditary myopathy with lactic acidosis due to ISCU deficiency?

Hereditary myopathy with lactic acidosis due to ISCU deficiency is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called iron-sulfur cluster assembly enzyme (ISCU). This protein is involved in the formation of iron-sulfur clusters, which are small molecules that are essential for the activity of certain enzymes. Mutations in the ISCU gene reduce or eliminate the activity of the ISCU protein, which disrupts the formation of iron-sulfur clusters and leads to the signs and symptoms of this disorder.

What are the treatments for Hereditary myopathy with lactic acidosis due to ISCU deficiency?

1. Dietary modifications: A low-carbohydrate diet may be recommended to reduce the amount of lactic acid produced in the body.

2. Medications: Medications such as riboflavin, thiamine, and coenzyme Q10 may be prescribed to help reduce lactic acid levels.

3. Exercise: Regular exercise can help reduce lactic acid levels and improve muscle strength.

4. Physical therapy: Physical therapy can help improve muscle strength and flexibility.

5. Gene therapy: Gene therapy is a potential treatment for ISCU deficiency, but it is still in the early stages of development.

What are the risk factors for Hereditary myopathy with lactic acidosis due to ISCU deficiency?

1. Inherited genetic mutation: Hereditary myopathy with lactic acidosis due to ISCU deficiency is caused by a mutation in the ISCU gene.

2. Age: The condition is more common in adults, although it can occur at any age.

3. Gender: The condition appears to be more common in males than females.

4. Ethnicity: The condition appears to be more common in people of African descent.

5. Family history: People with a family history of the condition are at an increased risk of developing it.

Is there a cure/medications for Hereditary myopathy with lactic acidosis due to ISCU deficiency?

At this time, there is no known cure for Hereditary myopathy with lactic acidosis due to ISCU deficiency. However, there are medications that can help manage the symptoms of the condition. These include medications to reduce muscle pain, improve muscle strength, and reduce lactic acid levels. Additionally, physical therapy and lifestyle modifications such as a healthy diet and regular exercise can help improve muscle strength and reduce fatigue.