Functional changes in Duchenne muscular dystrophy

Mazzone, Elena; Vasco, Gessica; Sormani, Maria Pia; Torrente, Yvan; Berardinelli, Angela; Messina, Sonia; D’Amico, Adele; Doglio, L.; Politano, Luisa; Cavallaro, Fabio; Frosini, Silvia; Bello, Luca; Bonfiglio, S; Zucchini, Elisabetta; Sanctis, Roberto De; Scutifero, Marianna; Bianco, F.; Rossi, Francesca; Motta, M.G.; Sacco, Angela; Donati, Maria Benedetta; Mongini, Tiziana; Pini, Antonella; Battini, Roberta; Pegoraro, Elena; Pane, Marika; Gasperini, Serena; Previtali, Stefano C.; Napolitano, Sara; Martinelli, Danilo; Bruno, Cristina; Vita, Giuseppe; Comi, Giacomo P.; Bertini, Enrico; Mercuri, Eugenio

doi:10.1212/wnl.0b013e318225ab2e

Cited by 159 publications

(225 citation statements)

References 14 publications

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“…Studies on scales for patients with neuromuscular di seases emphasize muscle strength, but postulate that there is no direct relationship between strength and functional per formance 10,17,19,20 . However, Doglio et al reported that some motor strategies may be adopted to compensate for muscle weakness and postpone wheelchair dependency 21 .…”

Section: Discussionmentioning

confidence: 99%

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Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy

Martini

Voos

Hukuda

et al. 2014

Arq. Neuro-Psiquiatr.

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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.Keywords: Duchenne muscular dystrophy, evaluation, scales. RESUMOObjetivo: Durante a fase de transição (deambulador -não-deambulador), sinergias musculares caracterizam a evolução da distrofia muscular de Duchenne (DMD). Este estudo visou descrever e quantificar os movimentos compensatórios durante o sentar/levantar do solo, subir/descer degraus. Oitenta vídeos (5 crianças × 4 avaliações × 4 tarefas) foram gravados trimestralmente durante o ano que antecedeu a perda da marcha. Método: Os movimentos compensatórios dos vídeos foram registrados utilizando a Escala de Avaliação Funcional para DMD. Resultados: Os movimentos compensatórios mais frequentemente observados foram apoio de membros superiores nos membros inferiores/solo/corrimão durante todas as tarefas funcionais e hiperlordose lombar, apoio de tronco no corrimão, pés equinos, aumento da base de suporte, descida não alternada e pausas ao subir/descer degraus. Subir/descer degraus apresentou um número maior de movimentos compensatórios do que sentar/levantar do solo. Conclusão: Sentar/levantar do solo foram habilidades perdidas antes de subir/descer degraus em crianças com DMD.Palavras-chave: distrofia muscular de Duchenne, avaliação, escalas.

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Section: Discussionmentioning

confidence: 99%

“…The description of the sequence of functional loss of these four tasks might clarify the progression of DMD. Therefore, knowing which of these tasks would be lost first might help profes sionals provide more specific assistance and guidance, with more tailored kinesiotherapy and orientations 9,10 .…”

mentioning

confidence: 99%

Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy

Martini

Voos

Hukuda

et al. 2014

Arq. Neuro-Psiquiatr.

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“…Understanding of DMD disease progression as measured by 6MWT has increased in recent years with publications of natural history data14, 15, 16, 17, 18, 19 as well as placebo‐arm reporting from DMD trials 20, 21, 22. Published data support that on average, 6MWT distance is stable or increases in patients <7 years of age, whereas it declines in older patients 15, 17, 18, 23, 24. Evidence also suggests that DMD genotype may influence disease severity 25…”

mentioning

confidence: 99%

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Mendell

Goemans²,

Lowes

et al. 2016

Annals of Neurology

445

392

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ObjectiveTo continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three‐year progression of eteplirsen‐treated patients was compared to matched historical controls (HC).MethodsAmbulatory DMD patients who were ≥7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or placebo for 24 weeks. Thereafter, all received eteplirsen on an open‐label basis. The primary functional assessment in this study was the 6‐Minute Walk Test (6MWT). Respiratory muscle function was assessed by pulmonary function testing (PFT). Longitudinal natural history data were used for comparative analysis of 6MWT performance at baseline and months 12, 24, and 36. Patients were matched to the eteplirsen group based on age, corticosteroid use, and genotype.ResultsAt 36 months, eteplirsen‐treated patients (n = 12) demonstrated a statistically significant advantage of 151m (p < 0.01) on 6MWT and experienced a lower incidence of loss of ambulation in comparison to matched HC (n = 13) amenable to exon 51 skipping. PFT results remained relatively stable in eteplirsen‐treated patients. Eteplirsen was well tolerated. Analysis of HC confirmed the previously observed change in disease trajectory at age 7 years, and more severe progression was observed in patients with mutations amenable to exon skipping than in those not amenable. The subset of patients amenable to exon 51 skipping showed a more severe disease course than those amenable to any exon skipping.InterpretationOver 3 years of follow‐up, eteplirsen‐treated patients showed a slower rate of decline in ambulation assessed by 6MWT compared to untreated matched HC. Ann Neurol 2016;79:257–271

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“…The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years 2,3 . Strength loss, such as in hip extension and ankle dorsiflexion, is considered the primary predictor of loss of ambu lation in DMD 4 , leading to progressively reduced walking capacity 5,6 . During the period of loss of ambulation, the children develop many compensatory movements to compensate for the weakness of limbgirdle muscles in the legs, such as the gluteus and quadriceps.…”

mentioning

confidence: 99%

“…Future evaluations, including those with a higher number of patients, prospective studies, and studies with similar physical therapy protocols, are necessary to confirm the results presented in that study. In addition, it is important to compare these results with measurements using traditional motor scales, such as the Motor Function Measure (MFM),the 6minute walk test (6MWT), and the North Star Ambulatory Assessment (NSAA) 3,5,6 . Finally, patients' use of ste roids could be tested to determine the variation of compensa tory movements under the effects of medication.…”

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confidence: 99%

Predicting the loss of ambulation in Duchenne muscular dystrophy

Zanoteli

2014

Arq. Neuro-Psiquiatr.

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Functional changes in Duchenne muscular dystrophy

Abstract: This study provides longitudinal data of NSAA and 6MWT over a 12-month period. These data can be useful when designing a clinical trial.

Cited by 159 publications

References 14 publications

Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy

Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

Predicting the loss of ambulation in Duchenne muscular dystrophy

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