Definition:
Glycogen storage disease type V is a glycogen storage disease characterized by a myophosphorylase deficiency. It is also known by the names muscle phosphorylase deficiency or McArdle's disease.
Diagnosis:
A blood test is conducted to determine the presence of creatine kinase. A muscle biopsy can be performed to confirm the diagnosis, and if positive the results will show no muscle phosphorylase and excessive glycogen levels.
Treatment:
There is no known treatment for glycogen storage disease type V. However, a healthy diet is important, and the patient must avoid anaerobic exercise. A diet rich in protein is beneficial in replacing damaged muscle. Weight should be controlled, and gentle aerobic exercise is beneficial to patients. Walking or cycling are ideal forms of gentle exercise that can help the patient control the symptoms.
Symptoms and Signs:
Symptoms include muscle difficulty during short yet intense activities, cramps, muscle pain, myalgia intolerance, stiff muscles during exercise, and fatigue. Rest can provide relief to aching muscles and can perform the second round of activities with less pain. Rhabdomyolysis may also occur, leading to myoglobinuria, a condition characterized by red or brown colored urine.
Causes:
Glycogen storage disease type V is hereditary and autosomal recessive in nature. Both parents of the patients must be carriers in order to inherit the disease.
:
glycogenstoragediseasetypev
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