McArdle syndromeFrom our partner site on chronic pain, ChronicPainConnection.com.
McArdle syndrome is a disease characterized by an inability to break down glycogen. Glycogen an important source of energy that is stored in muscle tissue. Alternative Names: Glycogen storage disease type V; Myophosphorylase Deficiency, Muscle Glycogen Phosphorylase Deficiency, PGYM Deficiency Causes, incidence, and risk factors: advertisement McArdle syndrome results from a mutation in a gene. The gene makes an enzyme called glycogen phosphorylase. As a result of this mutation, glycogen cannot be broken down in the muscles. This may lead to weakness, cramps, and muscle pain. The disease is inherited as an autosomal recessive genetic disorder. This means that an affected person inherits a copy of the defective gene from both parents. A person who inherits a defective gene from only one parent is usually not affected. A family history of McArdle syndrome increases the risk.
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