Role of Ultrasound in Diagnosis of Muscle Diseases

Study Overview
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Brief Summary
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The study aims to provide a timely update on the role of combining clinical and neuromuscular ultrasound assessments in diagnosis and follow-up of various muscle diseases in clinical practice over 12 months period, and correlating US findings with functional scales, biochemical and electrophysiological studies.

Detailed Description
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Many muscle diseases share common clinical features that render arriving at appropriate diagnoses difficult. The combination of muscle imaging with clinical can limit the differential diagnosis and yield the most probable one and can direct genetic testing as the only method to arrive at a definite diagnosis. In recent years, the use of high-resolution ultrasound had become an important tool in diagnosis and in the monitoring of disease progression and treatment of both hereditary and acquired myopathies. Additionally, it entails a safe, accessible, low-cost, and no ionizing radiation tool which renders the technique extremely suitable for paediatric patients and patients who cannot lie still without sedation. therefore, it can be used as a complementary tool to electro-diagnosis. Ultrasound permits to evaluate echo intensity, muscle perfusion, transverse and longitudinal sections of the muscle and its thickness at rest and during maximal voluntary contractions, overlying subcutaneous fat, cross-sectional area, and angled fibers of pennate muscles. The use of sonographically guided biopsy is an easy, safe, and reliable method for attaining tissue for histologic diagnosis in neuromuscular disease. In most myopathies, either acute or chronic, muscle tissue undergoes morphological changes giving rise to replacement of muscle by connective tissue and/or fat. Pattern recognition on muscle imaging might be helpful in distinguishing between different disease entities.

Official Title
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The Role of Neuromuscular Ultrasound in Diagnosis of Muscle Diseases

Conditions
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Ultrasound, Muscle Disease

Intervention / Treatment
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* Device: Neuromuscular Ultrasound (US)
* Device: Electrophysiological studies
* Diagnostic Test: Seum CPK, CK-MM levels, Lactate dehydrogenase and alanine aminotransferase.


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Males and females. 2-60 years old. For patients with acute inflammatory myositis: patients presenting with characteristic picture of acute inflammatory myositis according to the myositis association 2019. For patients with acute inflammatory myositis: newly diagnosed patients within one month from onset of disease. All patients not received any previous specific treatment for myopathy. Exclusion Criteria: Patients with clinically or electrophysiologically suspected other neuromuscular conditions that mimic myopathy such as motor neuron disease, neuromuscular junction disorders. Patients with secondary causes of myopathies; as drug induced, endocrinal disorders like diabetes mellitus and hypothyroidism or metabolic myopathy. Patients who received any previous specific treatment for myopathy

Ages Eligible for Study
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Minimum Age: 2 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with muscle disease(myositis, hereditary myopathy)<br>Includes 32 symptomatic patients with muscle disease subdivided into two subgroups (a) 16 patients with acute inflammatory myositis; And (b)16 patients with hereditary myopathy. The patients will be subjected to neuromuscular ultrasound (US) and electrophysiology at baseline,after 6 months and after 12 months. The number and location of studied muscles will be determined according to pattern of clinical presentation. | Device: Neuromuscular Ultrasound (US)<br>* Quantitative ultrasound measurements will be performed to studied muscles according to a standard protocol; for each muscle three consecutive measurements will be made to minimize variation in echo intensity during analysis .The captured images will be analyzed offline for echo intensity by means of computer-assisted grayscale histogram analysis.The study will be performed using My lab 7 ultrasound system (Esaote company, Italy) that is equipped by 7-19 MHz linear array transducer and color and power Doppler. Technique: evaluation of studied muscles for echo intensity (ECHO), quantitative assessments of echointensity, muscle perfusion, transverse and longitudinal sections of the muscle and its thickness at rest and during maximal voluntary contractions (MVC), overlying subcutaneous fat, cross-sectional area (CSA), and angled fibers of pennate muscles.<br>Device: Electrophysiological studies<br>* Includes: Motor and sensory nerve conduction study, F-wave and H-reflex study to assess the proximal roots, Electromyography (EMG) of the studied muscles. using machine: recordings will be performed with a Nihon Kohden equipment (model 7102) with the following parameters: sweep time 8 ms/D, sensitivity 0.5 mV/D, low frequency filter 2 Hz, high frequency filter 10 kHz, stimulation duration 0.1 ms and stimulation frequency 1 Hz.<br>Diagnostic Test: Seum CPK, CK-MM levels, Lactate dehydrogenase and alanine aminotransferase.<br>* measured in U/L using ELISA.<br>|
| Healthy volunteers as control group<br>Includes 32 healthy volunteers as control group. They will be subjected to neuromuscular ultrasound (US) and electrophysiology at baseline. Their age, sex, number and location of studied muscles will be matched with patients' group. | Device: Neuromuscular Ultrasound (US)<br>* Quantitative ultrasound measurements will be performed to studied muscles according to a standard protocol; for each muscle three consecutive measurements will be made to minimize variation in echo intensity during analysis .The captured images will be analyzed offline for echo intensity by means of computer-assisted grayscale histogram analysis.The study will be performed using My lab 7 ultrasound system (Esaote company, Italy) that is equipped by 7-19 MHz linear array transducer and color and power Doppler. Technique: evaluation of studied muscles for echo intensity (ECHO), quantitative assessments of echointensity, muscle perfusion, transverse and longitudinal sections of the muscle and its thickness at rest and during maximal voluntary contractions (MVC), overlying subcutaneous fat, cross-sectional area (CSA), and angled fibers of pennate muscles.<br>Device: Electrophysiological studies<br>* Includes: Motor and sensory nerve conduction study, F-wave and H-reflex study to assess the proximal roots, Electromyography (EMG) of the studied muscles. using machine: recordings will be performed with a Nihon Kohden equipment (model 7102) with the following parameters: sweep time 8 ms/D, sensitivity 0.5 mV/D, low frequency filter 2 Hz, high frequency filter 10 kHz, stimulation duration 0.1 ms and stimulation frequency 1 Hz.<br>Diagnostic Test: Seum CPK, CK-MM levels, Lactate dehydrogenase and alanine aminotransferase.<br>* measured in U/L using ELISA.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The rate of decline of patients with muscle disorder versus normal subjects as assessed by quantitative ultrasound measurements and electrophysiology studies. | With the successful completion of this aim, the investigators will establish that alterations in both quantitative ultrasound and electromyography will provide meaningful measures of disease progression. | up to 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rate of change in Functional assessment of muscle weakness | Grading score from 0-10 according to affected muscles | up to 12 months | 
| Rate of change in manual muscle strength testing by EXPANDED MRC (The modified Medical Research Council) | Grading scale from 0 -5 points, measures strength of each muscle group score 0 is the weakest (worst) and 5 is the strongest (best) | up to 12 months | 
| Rate of change of serum CPK and CK-MM levels | measured in U/L using ELISA | up to 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Ultrasound, Muscle, Electrophysiology