Body composition and clinical outcome measures in patients with myotonic dystrophy type 1

Background: Muscle weakness is a cardinal sign of myotonic dystrophy type 1, causing important functional mobility limitations and increasing the risk of falling. As a non-pharmacological, accessible and safe treatment for this population, strength training is an intervention of choice. Objective: To document the effects and acceptability of an individualized semi-supervised home-based exercise program on functional mobility, balance and lower limb strength, and to determine if an assistive training device has a significant impact on outcomes. Methods: This study used a pre-post test design and men with the adult form of DM1 were randomly assigned to the control or device group. The training program was performed three times a week for 10 weeks and included three exercises (sit-to-stand, squat, and alternated lunges). Outcome measures included maximal isometric muscle strength, 10-Meter Walk Test, Mini-BESTest, 30-Second Chair Stand Test and 6-minute walk test. Results: No outcome measures showed a significant difference, except for the strength of the knee flexors muscle group between the two assessments. All participants improved beyond the standard error of measurement in at least two outcome measures. The program and the device were well accepted and all participants reported many perceived improvements at the end of the program. Conclusions: Our results provide encouraging data on the effects and acceptability of a home-based training program for men with the adult form of DM1. These programs would reduce the financial burden on the health system while improving the clinical services offered to this population.

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Review of patient-reported outcome measures for use in myotonic dystrophy type 1 patients

Muscle & Nerve ◽

10.1002/mus.25469 ◽

2017 ◽

Vol 56 (1) ◽

pp. 86-92 ◽

Cited By ~ 10

Author(s):

Tara Symonds ◽

Jason A. Randall ◽

Patrick Campbell

Keyword(s):

Myotonic Dystrophy ◽

Outcome Measures ◽

Patient Reported Outcome Measures ◽

Patient Reported Outcome ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Patient Reported

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0457: Atrial flutter in myotonic dystrophy type 1: patient characteristics and clinical outcome

Archives of Cardiovascular Diseases Supplements ◽

10.1016/s1878-6480(16)30077-5 ◽

2016 ◽

Vol 8 (1) ◽

pp. 26

Author(s):

Karim Wahbi ◽

Frederic Sebag ◽

Nicolas Lellouche ◽

Arnaud Lazarus ◽

Henri-Marc Bécane ◽

...

Keyword(s):

Clinical Outcome ◽

Atrial Flutter ◽

Myotonic Dystrophy ◽

Patient Characteristics ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-17-0143 ◽

2018 ◽

Vol 2018 ◽

Cited By ~ 3

Author(s):

Ken Takeshima ◽

Hiroyuki Ariyasu ◽

Tatsuya Ishibashi ◽

Shintaro Kawai ◽

Shinsuke Uraki ◽

...

Keyword(s):

Diabetes Mellitus ◽

Body Composition ◽

Replacement Therapy ◽

Myotonic Dystrophy ◽

Hpa Axis ◽

List Type ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Secondary Hypogonadism

Summary Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine manifestations typically seen in patients with DM1. Abnormalities of hypothalamic–pituitary–adrenal (HPA) axis have also been reported in some DM1 patients. We present a case of DM1 with a rare combination of multiple endocrinopathies; diabetes mellitus, a combined form of primary and secondary hypogonadism, and dysfunction of the HPA axis. In the present case, diabetes mellitus was characterized by severe insulin resistance with hyperinsulinemia. Glycemic control improved after modification of insulin sensitizers, such as metformin and pioglitazone. Hypogonadism was treated with testosterone replacement therapy. Notably, body composition analysis revealed increase in muscle mass and decrease in fat mass in our patient. This implies that manifestations of hypogonadism could be hidden by symptoms of myotonic dystrophy. Our patient had no symptoms associated with adrenal deficiency, so adrenal dysfunction was carefully followed up without hydrocortisone replacement therapy. In this report, we highlight the necessity for evaluation and treatment of multiple endocrinopathies in patients with DM1. Learning points: DM1 patients could be affected by a variety of multiple endocrinopathies. Our patients with DM1 presented rare combinations of multiple endocrinopathies; diabetes mellitus, combined form of primary and secondary hypogonadism and dysfunction of HPA axis. Testosterone treatment of hypogonadism in patients with DM1 could improve body composition. The patients with DM1 should be assessed endocrine functions and treated depending on the degree of each endocrine dysfunction.

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Outcome measures frequently used to assess muscular strength in patients with Myotonic Dystrophy Type 1: A Systematic Review

Neuromuscular Disorders ◽

10.1016/j.nmd.2021.09.014 ◽

2021 ◽

Author(s):

Tiago Mateus ◽

Adriana Costa ◽

Diana Viegas ◽

Alda Marques ◽

Teresa Herdeiro ◽

...

Keyword(s):

Systematic Review ◽

Myotonic Dystrophy ◽

Outcome Measures ◽

Muscular Strength ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type

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Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

Neurology Genetics ◽

10.1212/nxg.0000000000000572 ◽

2021 ◽

Vol 7 (2) ◽

pp. e572

Author(s):

Stephan Wenninger ◽

Sarah A. Cumming ◽

Kristina Gutschmidt ◽

Kees Okkersen ◽

Aura Cecilia Jimenez-Moreno ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Outcome Measures ◽

Clinical Symptoms ◽

Control Group ◽

Mcgill Pain Questionnaire ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Link Type ◽

Cardiac Symptoms

ObjectiveTo assess the association between variant repeat (VR) interruptions in patients with myotonic dystrophy type 1 (DM1) and clinical symptoms and outcome measures after cognitive behavioral therapy (CBT) intervention.MethodsAdult patients with DM1 were recruited within the OPTIMISTIC trial (NCT02118779). Disease-related history, current clinical symptoms and comorbidities, functional assessments, and disease- and health-related questionnaires were obtained at baseline and after 5 and 10 months. After genetic analysis, we assessed the association between the presence of VR interruptions and clinical symptoms' long-term outcomes and compared the effects of CBT in patients with and without VR interruptions. Core trial outcome measures analyzed were: 6-minute walking test, DM1-Activ-C, Checklist Individual Strength Fatigue Score, Myotonic Dystrophy Health Index, McGill-Pain questionnaire, and Beck Depression inventory—fast screen. Blood samples for DNA testing were obtained at the baseline visit for determining CTG length and detection of VR interruptions.ResultsVR interruptions were detectable in 21/250 patients (8.4%)—12 were assigned to the standard-of-care group (control group) and 9 to the CBT group. Patients with VR interruptions were significantly older when the first medical problem occurred and had a significantly shorter disease duration at baseline. We found a tendency toward a milder disease severity in patients with VR interruptions, especially in ventilation status, mobility, and cardiac symptoms. Changes in clinical outcome measures after CBT were not associated with the presence of VR interruptions.ConclusionsThe presence of VR interruptions is associated with a later onset of the disease and a milder phenotype. However, based on the OPTIMISTIC trial data, the presence of VR interruptions was not associated with significant changes on outcome measures after CBT intervention.Trial Registration InformationClinicalTrials.govNCT02118779.

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