Duchenne Muscular Dystrophy and the Viscoelastic Properties of Upper Limb Muscles

Condition(s) studied

Study summary

Muscular dystrophies are hereditary and progressive skeletal muscle diseases that cause degeneration and loss of strength in the muscles. The most common form is Duchenne Muscular Dystrophy (DMD), which is X-linked recessive and develops due to a mutation in the dystrophin gene. Dystrophin is a membrane protein found in skeletal muscle, cardiac muscle, vascular smooth muscle, and the brain, functioning as a component of the glycoprotein complex. In the absence of dystrophin, proteases break down the glycoprotein complex, resulting in the loss of membrane proteins, which leads to degeneration and weakness of muscle fibres. In addition to skeletal muscle, involvement of the respiratory and cardiac muscles is the most important cause of morbidity and mortality. Children with DMD are usually diagnosed with abnormal gait, frequent falls, and difficulty climbing stairs. Progressive functional loss is observed over time. Although the disease usually begins in the lower extremities, it eventually affects the upper extremities as well. Early stage: Lower extremity muscles are more affected (walking and climbing stairs become difficult). Advanced stages: Shoulder girdle, arm, and hand muscles begin to be affected. Weakness is particularly seen in the deltoid, biceps, and triceps muscles. There is limited shoulder movement and difficulty raising the arm. Therefore, functional losses are seen in the upper extremities.

Functional losses generally cause difficulties in daily living activities; tasks requiring upper limb use, such as dressing, eating, and combing hair, become difficult. Hand skills (fine motor functions) are usually affected later, but distal muscles may also weaken over time. In summary, upper limb muscles weaken in individuals with DMD as the disease progresses. This can affect the individual's daily living activities. Regular monitoring of upper limb function, appropriate rehabilitation programmes, and supportive treatments aimed at improving quality of life are of great importance.

Eligibility

Primary outcome measure(s)

• Myoton Pro: — 3 months
  In our study, we will use the MyotonPRO device to measure the passive mechanical properties (muscle tone, stiffness, elasticity) of our target muscles . Target Muscle Groups: The biceps brachii, triceps brachii, deltoid (anterior portion), and extensor digitorum muscles will be measured. MyotonPRO Measurement Procedure: Participants will be assessed in a seated or supine position. Measurements will be taken from the dominant limb. Three repetitions will be taken for each muscle, and the average value will be used in the analysis. Measurements should be taken at rest.
• Nine Hole Peg Test — 3 months
  Instruct the patient to use the hand being assessed to take the pegs out of the container one by one as quickly as possible and place them into the holes on the board. Then instruct the patient to remove the pegs from the holes one by one and place them back into the container. Start the stopwatch when the patient touches the first peg and stop it when the last peg is placed in the container. Score the patient based on how many seconds it took to complete the test. Alternatively, the number of pegs placed within 50 or 100 seconds can be recorded. In this case, the results are expressed as the number of pegs placed per second.
• 6-Minute Pegboard Test (6PBRT) — 3 months
  This test is a commonly used tool for assessing upper extremity function. During the test, participants attempt to place the pegs from the bottom two rows onto the pegs in the top row as quickly as possible for 6 minutes. This process tests both hand-eye coordination and fine motor skills.
• Manual muscle testing device — 3 months
  Muscle strength in the dominant upper extremity, including the shoulder, elbow, wrist, and finger flexor and extensor muscles, will be measured using the Commander Echo brand manual muscle testing device. The participant will be asked to resist as much as possible, and the maximum force will be recorded. After informing the participants, one trial will be conducted. The muscle strength measurement will be repeated three times, and the average value will be recorded in kilograms.
• SF-12 — 3 months
  a short and practical measurement tool used to assess health-related quality of life. It is a self-reported outcome measure that assesses the impact on an individual's daily life. It is commonly used as a measure of quality of life. The SF-12 is a shortened version of the SF-36, which was developed from the Medical Outcomes Study. The SF-12 was developed by Ware and colleagues after 10 years of experience.

Trial sites (1)

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