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Exertional symptoms are the hallmarks of metabolic myopathies, supporting the concept of using functional tests when this diagnosis is suspected. Exercise increases the concentration of muscle metabolites in the venous blood supply (e.g. lactate, pyruvate, and ammonia) especially during recovery. The purpose of this study is to compare the results of exercise testing with to the data from muscle biopsy or genetic analysis.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| metabolic exercise testing | All the subjects referred to performed a metabolic exercise testing. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| functional test | Device | subjects perform a metabolic exercise testing |
| |
| Measure | Description | Time Frame |
|---|---|---|
| Whole-body dynamic exercise | The relation between Cardiopulmonary exercise test variables and the results of muscle biopsy or genetic analysis will be evaluated. | Participants will be followed for an expected average of 1 year to determine whether a muscle biopsy is performed |
| Grip-test | The relation between Grip-test variables and the results of muscle biopsy or genetic analysis will be evaluated. | Participants will be followed for an expected average of 1 year to determine whether a muscle biopsy is performed |
| Blood tests | The results of blood analysis from samples performed before, during, and after exercise will be compared to the results of muscle biopsy or genetic analysis. | Participants will be followed for an expected average of 1 year to determine whether a muscle biopsy is performed |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects referred to perform a metabolic exercise testing.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fabrice Rannou, MD, PhD | Contact | 33(0)298347366 | fabrice.rannou@chu-brest.fr | |
| Fabrice Rannou, MD, PhD | Contact | 33(0)298347366 | fabrice.rannou@univ-brest.fr |
| Name | Affiliation | Role |
|---|---|---|
| Fabrice Rannou, MD, PhD | CHRU BREST | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Hospitalier Régional Universitaire | Recruiting | Brest | 29609 | France |
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| ID | Term |
|---|---|
| D063806 | Myalgia |
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D010641 | Phenotype |
| ID | Term |
|---|---|
| D055614 | Genetic Phenomena |
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Blood sample Urine sample Muscle tissue DNA
| matching genotype with phenotype |
| Genetic |
|
| D059352 | Musculoskeletal Pain |
| D010146 | Pain |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |