McArdle disease
ICD-10 E74.04 is a billable code used to indicate a diagnosis of mcardle disease.
McArdle disease, also known as glycogen storage disease type V, is a rare inherited metabolic disorder caused by a deficiency of the enzyme muscle phosphorylase. This enzyme is crucial for the breakdown of glycogen into glucose, which is necessary for energy production during physical activity. Patients with McArdle disease typically present with exercise intolerance, muscle cramps, and myoglobinuria following strenuous exercise. Symptoms often manifest in childhood or adolescence, and affected individuals may experience fatigue, muscle pain, and weakness during activities that require anaerobic metabolism. Diagnosis is confirmed through enzyme assays, genetic testing, and muscle biopsy. Management focuses on lifestyle modifications, including tailored exercise programs and dietary adjustments to optimize energy availability. Understanding the genetic basis of this condition is essential for genetic counseling and family planning.
Detailed family history and genetic testing results.
Counseling families about inheritance patterns and risks.
Ensure accurate coding based on genetic findings.
Comprehensive neurological assessments and muscle biopsy results.
Evaluating muscle weakness and exercise intolerance.
Documenting the impact of symptoms on daily activities.
Used to confirm diagnosis of McArdle disease.
Document the rationale for testing and results.
Genetics specialists should ensure comprehensive family history is included.
Common symptoms include exercise intolerance, muscle cramps, fatigue, and myoglobinuria after strenuous activity.
Diagnosis is typically made through clinical evaluation, enzyme assays, and genetic testing to confirm the deficiency of muscle phosphorylase.
