Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy

Study Overview
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Brief Summary
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OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients. III. Assess the glucose uptake in the leg and forearm tissues of these patients. IV. Determine the stability of the DM gene lesion in muscles over a 5-10 year period.

Detailed Description
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PROTOCOL OUTLINE: Patients are placed on a meatless diet 3 days prior to study entry. During the first 5-day hospital stay, patients receive an oral glucose tolerance test, an intravenous glucose tolerance test, and an intravenous infusion of insulin and glucose (dextrose) to determine the degree of insulin resistance. Patients also receive dual x-ray absorptiometry (DEXA) scan and total body potassium count to measure muscle mass. Patients undergo strength testing and physical fitness screening. A needle biopsy is performed to investigate the genetic alterations associated with this disease. During the second 3-day hospital stay, patients receive an intravenous infusion of insulin, stable isotopic glucose, and stable isotopic glycerol. During the third 3-day hospital stay, a catheter is placed in the femoral artery, femoral vein, and in each arm. Patients receive an infusion of stable isotopic glucose, stable isotopic phenylalanine, and insulin. Measurements of the balance of amino acids and glucose across the forearm and leg are completed. Green dye is infused to measure blood flow in the leg.

Official Title
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Myotonic Dystrophy:Muscle Wasting and Altered Metabolism

Conditions
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Myotonic Muscular Dystrophy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Clinically mild or moderate myotonic dystrophy (DM), proximal myotonic myopathy (PROMM), facioscapulohumeral muscular dystrophy (FSH) or, Charcot-Marie-Tooth (CMT) Mild or moderate DM defined as: Mild muscle weakness in the limbs, modest facial weakness, and mild grip myotonia; Moderate muscle weakness in the limbs, typical DM facies, and prominent grip myotonia Exclusion Criteria: Prior or concurrent therapy Obese Concurrent acute illness

Ages Eligible for Study
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Minimum Age: 21 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 |
| --- | --- |
| Myotonic dystrophy<br>Subjects with myotonic dystrophy | |
| Healthy controls<br>Healthy subjects | |
| Disease controls 1<br>Subjects with FSHD | |
| Disease controls 2<br>Subjects with CMT | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quantitative myometry (QMT) |  | Visit 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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CMT, Genetic diseases, Myotonic muscular dystrophy, Facioscapulohumeral muscular dystrophy, Rare disease