E74.04
McArdle disease
Clinical Classification Guidelines
Inclusion Terms
- Type V glycogen storage disease
Medical Intelligence & Overview
McArdle disease, also known as Glycogen Storage Disease Type V, is a rare inherited disorder that affects how muscles break down glycogen, the stored form of sugar. This condition is caused by a deficiency of the enzyme myophosphorylase, which is essential for converting glycogen into glucose during muscle activity. As a result, individuals with McArdle disease often experience muscle weakness and fatigue during physical exertion. Recognizing the symptoms and understanding the nature of this disorder can aid in managing its effects effectively.
Causes & Symptoms
Clinical Causes: Genetic mutations in the PYGM gene, responsible for producing the enzyme myophosphorylase Inheritance pattern follows an autosomal recessive mode, meaning both parents must pass on the defective gene Lack of the enzyme leads to an inability to adequately break down glycogen in muscle cells during activity
Key Symptoms: Muscle pain and stiffness following physical activity Weakness or fatigue in muscles during exercise Cramping in muscles after exertion Dark-colored urine, particularly after strenuous activity, due to muscle breakdown Repeated episodes of exercise intolerance In some cases, stiffness or swelling in affected muscles
Diagnostic & Treatment
Diagnosis Path: Diagnosing McArdle disease involves a combination of clinical evaluations and laboratory tests. Medical professionals may perform the following:
Treatment Protocols: Implementing a tailored exercise program to avoid overexertion and reduce muscle stress Consuming a high-protein, carbohydrate-rich diet to help maintain energy levels Use of dietary supplements such as creatine or carnitine to support muscle function Avoiding strenuous activities during hot weather or when feeling unwell Monitoring for and managing episodes of muscle damage or breakdown
Clinical Advice & FAQs
Billing Guidance
Is E74.04 a billable ICD-10 code?
Yes, E74.04 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.04?
Clinical documentation must specify the nature of McArdle disease and any associated comorbidities for accurate reporting.
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