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Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making., Objective: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies., Methods: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance., Results: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations., Conclusion: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.

We compared the timed performance and compensatory movements of 32 boys (mean age = 10.0 years) with Duchenne muscular dystrophy (DMD) and 38 healthy boys (mean age = 9.2 years) on 10 -meter walking and four-step stair work (climbing and descending). Dependent measures were digital scores on the Functional Evaluation Scale for DMD obtained by watching the boys on film. Groups were compared initially and after 6 and 12 months, using General Linear Models analysis (for two groups and three assessments). Results showed no significant timed performance differences between groups on 10 -m walking at the initial assessment; but boys with DMD showed longer times after 6 and 12 months, and boys with DMD engaged in more compensatory movements while walking. For stair climbing, boys with DMD were significantly slower than healthy controls when both climbing and descending steps in all assessments.

Objective: To determine how often sitting/rising from a chair should be assessed in Duchenne muscular dystrophy (DMD) patients to avoid redundant/missing data., Methods: Sitting/rising from a chair was evaluated in 26 DMD children (5-12 yrs), in three-month intervals, over twelve months, with the Functional Evaluation Scale (domain sitting/rising from a chair). Scores were compared by effect sizes (ES) and standardized response means (SRM) (responsiveness analysis)., Results: Sit-to-stand showed low-to-moderate responsiveness in three-month intervals (ES:0.23-0.32; SRM:0.36-0.68), moderate-to-high responsiveness in six-month intervals (ES:0.52-0.65; SRM:0.76-1.28), high responsiveness at nine-month (ES:0.84-0.91; SRM:1.26-1.64) and twelve-month intervals (ES:1.27; SRM:1.48). Stand-to-sit showed low responsiveness in three-month intervals (ES:0.26-0.49; SRM:0.37-0.42), moderate responsiveness in six-month intervals (ES:0.50-0.78; SRM:0.56-0.71), high responsiveness in nine-month (ES:0.94-1.00; SRM:0.84-1.02) and twelve-month intervals (ES:1.13; SRM:1.52)., Conclusion: Six months or longer intervals for reassessment are indicated to evaluate sitting/standing from a chair in DMD patients.

Background and Purpose: The progression of Duchenne muscular dystrophy (DMD) results in the emergence of multiple and varied synergies to compensate muscle weakness and to deal with the demands of the functional tasks (e.g. gait). No functional evaluation instrument for individuals with DMD allows the detailed description (subjective qualitative evaluation) and compensatory movement scoring (objective quantitative evaluation) exclusively of gait. For this reason, clinicians and therapists face difficulties in assessment and decision-making of this functional activity. This study aimed to elaborate the gait domain of the Functional Evaluation Scale for DMD (FES-DMD-GD) and test its intra-rater and inter-rater reliabilities and its relationship with age and timed motor performance., Method: We listed all the compensatory movements observed in 102 10-m gait videos of 51 children with DMD. Based on this report, the FES-DMD-GD was created and submitted to the review of 10 experts. After incorporating the experts suggestions, three examiners scored the videos using the FES-DMD-GD. The intra-rater and inter-rater reliabilities was calculated. Spearman correlation tests investigated the relationships between FES-DMD-GD and age and timed motor performance (p < 0.05)., Results: The FES-DMD-GD was composed of three phases and had 14 items to quantify compensatory movements on gait. Intra-class correlation coefficients ranged from acceptable (0.74) to excellent (0.99). FES-DMD-GD correlated to age and timed motor performance., Conclusion: This pilot version of FES-DMD-GD showed reliability and correlated to age and timed motor performance., (Copyright © 2014 John Wiley & Sons, Ltd.)

Background: The measurement of time and compensatory movements for functional tasks is not frequently used to evaluate children with Duchenne muscular dystrophy (DMD). As muscle weakness progresses, new synergies (compensatory movements) are selected to perform the tasks, demanding higher times., Objectives: The present study aimed to describe the timed motor performance of rising from the floor to standing, sitting down on the floor from standing, climbing up four steps and climbing down four steps 18 and 6 months prior to gait loss and to investigate possible relationships between these timed performances, the compensatory movements and the Vignos Scale (VS) scores., Method: Fourteen children with DMD (mean age: 9.6) were videotaped performing the tasks. Spearman correlation tests investigated the relationships between the times, compensatory movements (scored by FES-DMD) and VS., Results: The timed performance and the compensatory movements for rising from the floor, climbing up and climbing down steps varied broadly and were correlated to each other among patients with DMD at 18 and 6 months prior to gait loss. The relationship was not found for sitting on the floor. The timed performance and compensatory movements for climbing up and down steps also correlated to the VS., Conclusion: Rising from the floor, climbing up, and climbing down steps have some components in common, such as the demand for muscle strength and the recruitment of compensatory muscle synergies, as DMD progresses. To sit down on the floor, some children let themselves fall, resulting in a faster performance, but more compensatory movements.

Objective: During the transitional phase (ambulatory to non-ambulatory), synergies characterize the evolution of Duchenne muscular dystrophy (DMD). This study was performed to describe and quantify compensatory movements while sitting down on/rising from the floor and climbing up/down steps., Method: Eighty videos (5 children × 4 assessments × 4 tasks) were recorded quarterly in the year prior to gait loss. Compensatory movements from the videos were registered based on the Functional Evaluation Scale for DMD., Results: The most frequently observed compensatory movements were upper limb support on lower limbs/floor/handrail during all the tasks and lumbar hyperlordosis, trunk support on handrail, equinus foot, increased base of support, non-alternated descent, and pauses while climbing up/down steps., Conclusion: Climbing up/down steps showed a higher number of compensatory movements than sitting down on/rising from the floor, which seemed to be lost before climbing up/down steps in ambulatory children with DMD.

The authors aimed to (a) develop a scale to evaluate non-wheelchair-dependent children with Duchenne muscular dystrophy (DMD) while sitting and standing from the chair, (b) test its reliability, and (c) correlate the scores of this scale with the time, the age and the Vignos. Thirty DMD boys performed sit-to-stand and stand-to-sit from the chair 4 times. Scale development was based on a previous movement characterization in healthy children and in DMD children and on suggestions by physical therapists with expertise in DMD. The final version of the scale was submitted to the analysis of reliability. The sitting evaluation consists of phases: flexion, contact of the hip with the chair, extension. The standing evaluation comprehends the phases: flexion; transference; extension. Sitting and standing phases presented an excellent reliability (intraclass correlation coefficient [ICC] ≥ 0.91) and a good reproducibility (ICC ≥ 0.89). The scores generated by sitting on the chair correlated to the time taken to perform the tasks (r = .69) and to the age of the patient (r = .44) and the score of standing from the chair also correlated to the time of performance (r = .66). The sit-to-stand functional evaluation scale DMD is a reliable assessment tool that allows the description and quantification of the functional performance of DMD children.