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McArdle Disease

McArdle Disease

It is a hereditary autosomal recessive disease in which there is deficient enzyme phosphorylase (or myophosphorylase) that physically breaks down glycogen during exercise in order to ensure the energy needed for the cells, as it is the stored form of glucose in our body . It is rare and its incidence is not known. Diagnosis may be delayed as well as adult life, but symptoms are present from childhood and may have been overlooked. This illness does not lead to disability and does not affect life expectancy.

 

Symptoms

There is intense muscular pain at onset of physical exercise, which if it continues, may present severe tension muscle contractures. In addition, there is muscle weakness and stiffness.

These symptoms can occur in any muscle group of the body, depending on the type of physical exercise. For example, when walking the pain is related to the legs, when carrying heavy objects it concerns the upper limbs or even during chewing, it may concern the muscles in the area of ​​the jaw.

Complications mainly involve the muscular destruction that follows, and because toxic substances are released from the damaged muscle cells, the patient may be led to a temporary renal insufficiency.

 

Diagnosis

Blood tests are performed to determine the CK enzyme, an indicator of muscle cell disruption. Previously, a muscle biopsy was performed, which was replaced by a genetic test that certainly leads to less painful diagnosis.

 

Management

There is no cure, but physiotherapy provides proper guidance and learning techniques for properly practicing and maintaining physical fitness. It consists of many breaks during physical exercise, as long as there is muscle pain and avoiding intense and painful physical exercises.

 

For follow-up clinical trials on the disease visit: https://clinicaltrials.gov/ct2/home

 

References

 

Muscular Dystrophy Association