Sensitivity to change and responsiveness of lowering to the ground and rising from the ground evaluation in Duchenne muscular dystrophy: one-year longitudinal observation

BACKGROUND: The progressive weakness of Duchenne muscular dystrophy (DMD) interferes with performance. This study investigated the sensitivity to change and the responsiveness of sitting and standing from the ground in patients with DMD. AIM: The aim was to assess the sensitivity to change and the responsiveness of lowering to/ rising from the ground, in three, six, nine, and twelve month-evaluation intervals and to define the most suitable reevaluation intervals for ambulatory patients with DMD. METHOD: This is an observational, longitudinal study. Recordings of 28 patients performing lowering to/ rising from the ground were analyzed. Sensitivity to change was assessed using effect sizes and standardized response means. Responsiveness was assessed using minimal detectable changes (MDC) and minimal clinically important differences (MCID). RESULTS: In the lowering to the ground, significant sensitivity to change was found in higher than 6 months reassessment intervals. In the rising from the ground, significant sensitivity to change was observed in higher than 9 reassessment intervals. MDC and MCID varied from 1.0 to 1.6 points and from 0.5 to 2.5 seconds when lowering to the ground and from 1.3 to 2.6 points and from 5.0 to 28.0 seconds when rising from the ground. CONCLUSION: Patients should be reassessed after nine months from the lowering to and rising from the ground. Increments of 2.0 points and/or 2.5 seconds (or higher) in the score of lowering to the ground assessment denote clinically relevant changes. Increments of 3 points (or higher) in rising from the ground assessment are clinically relevant.

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Faculty Opinions recommendation of Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726158315.793521525 ◽

2016 ◽

Author(s):

Kathryn North ◽

Jane Seto

Keyword(s):

Longitudinal Study ◽

Duchenne Muscular Dystrophy ◽

Magnetic Resonance ◽

Muscular Dystrophy ◽

Prospective Longitudinal Study ◽

Prospective Longitudinal

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Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy

Medicina ◽

10.3390/medicina57111267 ◽

2021 ◽

Vol 57 (11) ◽

pp. 1267

Author(s):

Claudia Brogna ◽

Lara Cristiano ◽

Tommaso Verdolotti ◽

Giulia Norcia ◽

Luana Ficociello ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Duchenne Muscular Dystrophy ◽

Magnetic Resonance ◽

Muscular Dystrophy ◽

Resonance Imaging ◽

Muscle Mri ◽

Functional Changes ◽

One Year ◽

Age Range

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5–16 years), and 17 non ambulant (age range 10–30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.

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A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases ◽

10.3233/jnd-210704 ◽

2021 ◽

pp. 1-14

Author(s):

Cathleen E. Buckon ◽

Susan E. Sienko ◽

Eileen G. Fowler ◽

Anita M. Bagley ◽

Loretta A. Staudt ◽

...

Keyword(s):

Longitudinal Study ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Muscle Strength ◽

Genetic Disorder ◽

Knee Extensor ◽

Standard Of Care ◽

Rate Of Change ◽

Isokinetic Dynamometry ◽

Gross Motor

Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder, that is characterized by progressive muscle degeneration and loss of ambulation between 7–13 years of age. Novel pharmacological agents targeting the genetic defects and disease mechanisms are becoming available; however, corticosteroid (CS) therapy remains the standard of care. Objective: The purpose of this longitudinal study was to elucidate the effect of CS therapy on the rate of muscle strength and gross motor skill decline in boys with DMD and assess the sensitivity of selected outcome measures. Methods: Eighty-four ambulatory boys with DMD (49–180 months), 70 on CS, 14 corticosteroid naïve (NCS), participated in this 8-year multi-site study. Outcomes included; isokinetic dynamometry, the Standing (STD) and Walking/Running/jumping (WRJ) dimensions of the Gross Motor Function Measure (GMFM), and Timed Function Tests (TFTs). Nonlinear mixed modeling procedures determined the rate of change with age and the influence of steroids. Results: Despite CS therapy the rate of decline in strength with age was significant in all muscle groups assessed. CS therapy significantly slowed decline in knee extensor strength, as the NCS group declined at 3x the rate of the CS group. Concurrently, WRJ skills declined in the NCS group at twice the rate of the CS group. 4-stair climb and 10 meter walk/run performance was superior in the boys on CS therapy. Conclusion: CS therapy slowed the rate of muscle strength decline and afforded longer retention of select gross motor skills in boys on CS compared to boys who were NCS. Isokinetic dynamometry, Walk/Run/Jump skills, and select TFTs may prove informative in assessing the efficacy of new therapeutics in ambulatory boys with DMD.

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Relevant aspects of golden retriever muscular dystrophy for the study of Duchenne muscular dystrophy in humans

Ciência Rural ◽

10.1590/0103-8478cr20160470 ◽

2017 ◽

Vol 47 (10) ◽

Author(s):

Julieta Rodini Engrácia de Moraes ◽

Lygia Maria Mouri Malvestio ◽

Isabela Mancini Martins ◽

Patrícia Regina Erdmann Mosko ◽

Jair Rodini Engracia Filho ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Phenotypic Expression ◽

Clinical Signs ◽

Golden Retriever ◽

Golden Retriever Muscular Dystrophy ◽

Cardiac Muscles ◽

Representative Model ◽

Progressive Weakness

ABSTRACT: Golden Retriever muscular dystrophy (GRMD) is the most representative model for studying Duchenne muscular dystrophy (DMD) in humans, owing its phenotypic expression. DMD is a recessive disorder linked to the X chromosome in which the loss of dystrophin induces progressive weakness and degeneration of the skeletal and cardiac muscles, which lead to replacement by connective and adipose tissues. Onset of clinical signs occurs between 2 and 5 years of age, and many patients die from heart or respiratory failure. The main studies concerning dystrophic Golden Retrievers (DGR) sought to elucidate the pathophysiology of the disease and its clinical implications to develop therapies and alternative treatments to improve the quality of life and increase longevity of DMD patients. This review presents an overview of relevant contributions of the DGR model for elucidating DMD in humans.

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