Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies

Study Overview
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Brief Summary
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Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.

Detailed Description
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Patients with inherited muscle diseases can have several miscellaneous problems in their muscles, which can be both structural and metabolic. Depending on the specific disease multiple symptoms may be present. All the different diseases can affect the contractility of the muscles. Examples of inherited muscle diseases are congenital myopathies and RYR1-myopathy, afflicting the muscle fiber structure. They are the first subgroups of inherited muscle diseases to be investigated in this study. Congenital myopathies are hereditary and relatively non-progressive diseases. Hypotonia is the clinical characteristic of congenital myopathies and is often presented already in the neonatal period. Almost all patients have generalized muscle weakness and hypotonia. The various subtypes of congenital myopathy are a broad group of disorders defined by the predominance of particular and specific structural abnormalities shown in muscle biopsies. Based on genetic and morphological features, they can be divided into four main groups; one with central cores, one with central nuclei, one with minicores and one with nemaline bodies. RYR1-myopathy is caused by a mutation in the RYR-gene. The RYR1-protein is important in the making of RYR1-receptors and channels responsible for the transport of calcium atoms within muscle cells, particularly in muscle contractions. Patients typically present with limb weakness, decreased fetal movement and skeletal abnormalities. About 70% of patients with malignant hyperthermia have a mutation in the RYR1-gene. MRI findings often include involvement of different muscles in the thigh and the calf.

Official Title
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Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls

Conditions
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Inherited Muscle Diseases, Congenital Myopathy, RYR1-myopathy

Intervention / Treatment
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* Other: MRI and Muscle Dynamometer


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Verified inherited muscle disease. Age: Over 18 years old Exclusion Criteria: Contraindications for an MRI. Claustrophobia. Pregnant or nursing women. Competing disorders (as arthritis) or other muscle disorders.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: MRI and Muscle Dynamometer|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Muscle CCSA, investigated by Dixon MRI techniques. | The MRI protocol include a whole body scan. The calf and thigh are chosen for qualitative analysis. Cross sectional area is calculated, the amount of adipose tissue is calculated, and the amount of adipose tissue is subtracted from the CSA, resulting in the CCSA. | MRI scan per subject lasts approximately 60 minutes. | 
| Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4). | The dynamometer makes it possible to isolate particular muscle groups. It is possible to control the range of motion and thereby test in an area free of pain. | The tests takes less than an hour per subject. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Muscle Strength, MRC | Assessment of the muscle strength by a clinical test using the Medical Research Council Scale for muscle strength (MRC-scale). | The exam lasts less than 15 min per subject. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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CCSA, MRI, Strength, Contractile Cross Sectional Area