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Pseudocholinesterase deficiency

Pseudocholinesterase deficiency

It is a condition in which there is deficiency of enzyme pseudocholinesterase which causes relaxation of the muscles. Pseudocholinesterase is a rare condition. It can be caused by sporadic or inherited condition.

Symptoms

The only signs and symptoms of pseudocholinesterase deficiency is prolonged muscles relaxation which can cause respiratory complications. The duration of muscle relaxation may vary person to person.

Causes

This type of disease can be occurred due to inherited or sporadic condition. Inherited disease occurs due the mutation in gene BCHE which is necessary to produce enzyme pseudocholinesterase.

Diagnosis

After taking history and conducting physical examination your doctor might recommend the following tests:

  • Blood test to check the level of hormone in blood
  • Genetic testing to check the genetic defect
Treatment

The main aim of treatment is to reduce the signs and symptoms. There is no cure for this condition. Drugs which cause muscle stiffness may be helpful in some cases.

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