The Most Reliable Diagnostic Tool for McArdle Disease: A Comprehensive Evaluation

Choose the diagnostic tool you think is the most reliable!

Author: Gregor Krambs
Updated on Apr 16, 2024 07:48
Are you a medical professional, student, or just someone keenly interested in the world of diagnostic tools? Well, StrawPoll has the perfect ranking challenge for you! We've curated a list of the most reliable diagnostic tools for McArdle Disease, a rare muscle disorder that affects people worldwide. Now, we need your expert opinion to determine the best of the best. Cast your vote and help us rank these crucial tools that aid in accurate and timely diagnosis. Don't see your favorite on the list? No worries! You can suggest an option that you believe is missing, and watch as the ranking evolves with each new vote. Join the StrawPoll community now, and contribute your knowledge to this riveting discussion on the most reliable diagnostic tools for McArdle Disease. Let's make this ranking as comprehensive and enlightening as possible!

What Is the Most Reliable Diagnostic Tool for McArdle Disease?

  1. 1
    Muscle biopsy
    Nephron · CC BY-SA 3.0
    A muscle biopsy can be used to confirm the diagnosis of McArdle Disease by detecting the absence of the enzyme myophosphorylase in muscle tissue.
    Muscle biopsy is a diagnostic procedure used to confirm the presence of McArdle Disease by examining a tissue sample from a patient's muscle. The procedure involves the removal of a small piece of muscle tissue for further analysis.
    • Invasiveness: Invasive
    • Accuracy: High
    • Reliability: High
    • Sensitivity: High
    • Specificity: High
  2. 2
    Creatine kinase (CK)
    A2-33 · CC BY-SA 3.0

    Creatine kinase (CK)

    Satoshi Suzawa
    2. Creatine kinase (CK) testing: CK levels in the blood may be elevated in individuals with McArdle Disease, particularly after exercise.
    Creatine kinase (CK) is an enzyme that plays a crucial role in energy metabolism, specifically in the conversion of creatine to phosphocreatine. It is primarily found in muscles and brain tissue.
    • Normal Range: Male: 39-308 U/L, Female: 26-192U/L
    • Diagnostic Accuracy: Highly sensitive and specific for muscle damage.
    • Sample Type: Blood serum or plasma.
    • Turnaround Time: Usually within a few hours to a day.
    • Non-Invasive: Requires a simple blood draw.
  3. 3
    McArdle Disease can be diagnosed by performing an exercise test, such as a forearm exercise test or a cycle ergometer test, which can demonstrate the absence of lactate production during exercise.
    Exercise testing is a diagnostic test for chronic obstructive pulmonary disease (COPD) that involves assessing the patient's lung function and symptoms during exercise. It evaluates how well the lungs and heart are functioning under stress and provides valuable information about exercise tolerance and limitations in individuals with COPD.
    • Objective: To assess exercise capacity and limitations in COPD patients
    • Method: Involves performing physical exercise while monitoring breathlessness, heart rate, oxygen consumption, and other relevant parameters
    • Equipment: Treadmill or stationary bicycle, ECG machine, pulse oximeter, spirometer
    • Duration: Typically lasts for 6-12 minutes, but can be extended based on patient capability
    • Protocol: Various protocols can be used, such as the incremental shuttle walk test (ISWT) or the cardiopulmonary exercise test (CPET)
    Exercise testing in other rankings
  4. 4
    McArdle Disease is caused by mutations in the PYGM gene, and genetic testing can confirm the presence of these mutations.
    Genetic testing for diagnosing Alzheimer's Disease is a diagnostic tool that examines an individual's genetic information to identify any genetic variants associated with the disease. It helps in confirming a diagnosis and understanding the risk of developing Alzheimer's in the future.
    • Accuracy: High, but not definitive
    • Methodology: Analysis of specific genes and genetic markers
    • Sample Type: Blood or saliva
    • Turnaround Time: Varies depending on the laboratory, typically a few weeks
    • Cost: Varies, can range from a few hundred to a few thousand dollars
    Genetic testing in other rankings
  5. 5
    Muscle ultrasound can be used to detect muscle damage in individuals with McArdle Disease.
    Muscle ultrasound is a non-invasive diagnostic tool used to assess the muscle structure and function. It involves using high-frequency sound waves to produce images of the muscles, enabling a detailed analysis of tissue abnormalities and potential disorders. In the case of McArdle Disease, muscle ultrasound can be used to detect specific abnormalities associated with the condition.
    • Portable: Yes, can be easily moved between locations
    • Safety: No ionizing radiation, considered safe for repeated use
    • Non-invasive: Yes
    • Imaging modality: Ultrasound
    • Frequency range: 2-18 MHz
  6. 6
    Magnetic resonance imaging (MRI)
    Tomáš Vendiš · CC BY-SA 4.0
    MRI can also be used to detect muscle damage in individuals with McArdle Disease.
    Magnetic resonance imaging (MRI) is a non-invasive medical imaging technique that uses a strong magnetic field and radio waves to generate detailed images of the body's internal structures. It provides valuable information about the function and structure of various organs, including the kidneys.
    • Magnetic Field Strength: 1.5 Tesla (T) or 3 Tesla (T)
    • Resolution: High resolution, capturing fine details
    • Contrast Enhancement: Ability to use contrast agents for better visualization of blood vessels and abnormalities
    • Multi-Planar Imaging: Ability to obtain images in different planes (sagittal, coronal, and axial)
    • Functional Imaging: Capability to assess kidney function by measuring blood flow and oxygenation levels
  7. 7
    EMG can be used to detect muscle damage and nerve dysfunction in individuals with McArdle Disease.
    Electromyography (EMG) is a diagnostic technique used to assess the health and functionality of muscles and nerves. It involves measuring the electrical activity produced by muscles during contraction and at rest. In the context of investigating ureteric colic, EMG can help determine the presence of any abnormal muscle or nerve activity in the region of interest.
    • Muscle Activation: EMG measures the activation and contraction patterns of muscles.
    • Electrical Activity: EMG records the electrical signals generated by muscle fibers.
    • Muscle Function: EMG helps evaluate muscle function and detect abnormalities.
    • Nerve Conduction: EMG can assess the speed and efficiency of nerve conduction in the muscles.
    • Probe or Needle Electrodes: EMG uses specialized electrodes (probes or needles) to detect and record muscle activity.
  8. 8

    Ischemic forearm test

    Dr. Brian McArdle
    This test involves restricting blood flow to one arm and then measuring lactate and ammonia levels in the blood after exercise. Individuals with McArdle Disease will not produce lactate during the test.
    The Ischemic forearm test is a reliable diagnostic tool for McArdle Disease, a rare metabolic disorder that affects the breakdown of glycogen. It is designed to assess the impairment of muscle glycogenolysis, which is characteristic of this disease. The test involves inducing ischemia, or temporary blood flow restriction, to the forearm muscles, followed by evaluating the patient's ability to recover from the induced stress.
    • Diagnostic accuracy: High
    • Sensitivity: 97-100%
    • Specificity: 96-100%
    • Procedure duration: Approximately 60 minutes
    • Equipment required: Sphygmomanometer, forearm cuff, handgrip dynamometer
  9. 9

    Muscle function tests

    Dr. Brian McArdle
    These tests assess muscle strength and endurance in individuals with McArdle Disease.
    Muscle function tests are a set of diagnostic procedures used to evaluate the muscle function and determine the presence of McArdle Disease or Glycogen Storage Disease Type V. These tests specifically measure the enzymatic activity of muscle tissue and assess its ability to generate and utilize energy during physical activity.
    • Ischemic forearm test: Determines how well the muscle can produce and utilize energy in ischemic conditions.
    • Cycle ergometer test: Evaluates the muscle's response to aerobic exercise through measurement of oxygen consumption.
    • Isotonic exercise test: Assesses muscle strength and endurance by analyzing the ability to perform repetitive exercises.
    • Isometric exercise test: Measures muscle strength under static conditions.
    • Muscle biopsy: Extracts a small sample of muscle tissue to examine the presence of any structural abnormalities.
  10. 10
    This involves monitoring heart rate, blood pressure, and oxygen levels during exercise to assess the severity of McArdle Disease.
    Exercise stress testing is a common and reliable diagnostic tool used for identifying McArdle Disease and evaluating the level of exercise intolerance in patients. This test involves subjecting the patient to a controlled and monitored exercise regimen while measuring various parameters to assess muscular function and energy metabolism.
    • Objective: To assess exercise-induced muscle damage and energy metabolism dysfunction
    • Patient Preparation: Detailed medical history, physical examination, and confirmation of suspected McArdle Disease through genetic testing
    • Exercise Protocol: Gradually increasing intensity of exercise by walking on a treadmill or cycling on an ergometer
    • Monitoring: Continuous measurement of heart rate, blood pressure, oxygen consumption, carbon dioxide production, and perceived exertion
    • Muscle Biopsy: Performed before and after exercise to assess glycogen accumulation and the formation of myoglobin aggregates

Missing your favorite diagnostic tool?


Ranking factors for reliable diagnostic tool

  1. Muscle biopsy
    This is the gold standard test for diagnosis, where a sample of muscle tissue is taken and analyzed for the presence of the enzyme myophosphorylase.
  2. Genetic testing
    This involves analyzing DNA for mutations in the PYGM gene, which codes for myophosphorylase, which can confirm the diagnosis.
  3. Blood tests
    These can include tests to measure the levels of creatine kinase (CK), lactate, and ammonia in circulation, which can be elevated in individuals with McArdle Disease.
  4. Exercise testing
    This involves assessing a patient's response to exercise to help confirm or rule out the diagnosis of McArdle Disease. This test can be done during a cycle ergometer exercise test or using a treadmill.

About this ranking

This is a community-based ranking of the most reliable diagnostic tool for McArdle Disease. We do our best to provide fair voting, but it is not intended to be exhaustive. So if you notice something or diagnoser is missing, feel free to help improve the ranking!


  • 211 votes
  • 10 ranked items

Voting Rules

A participant may cast an up or down vote for each diagnoser once every 24 hours. The rank of each diagnoser is then calculated from the weighted sum of all up and down votes.


More information on most reliable diagnostic tool for mcardle disease

McArdle Disease is a rare genetic disorder that affects the way the body produces and stores energy. It is caused by a deficiency in the enzyme glycogen phosphorylase, which is responsible for breaking down glycogen into glucose. This deficiency leads to the accumulation of glycogen in muscle cells, causing muscle weakness, cramping, and fatigue during physical activity. Diagnosing McArdle Disease can be challenging as symptoms can vary widely between individuals and may not appear until adulthood. However, several diagnostic tools can be used to confirm the diagnosis, including blood tests to measure creatine kinase levels, muscle biopsy to examine glycogen accumulation, and exercise testing to assess muscle function. Of these diagnostic tools, exercise testing is considered the most reliable method for diagnosing McArdle Disease. During exercise testing, patients perform physical activity while monitoring their oxygen consumption and lactate levels. Individuals with McArdle Disease typically show a characteristic pattern of low oxygen consumption and high lactate levels during exercise, indicating impaired muscle function. Overall, early diagnosis of McArdle Disease is crucial for managing symptoms and preventing complications. If you are experiencing muscle weakness, cramping, or fatigue during physical activity, it is important to speak with your healthcare provider about the possibility of McArdle Disease and discuss appropriate diagnostic testing.

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