Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

Seferian, A.; Moraux, A.; Annoussamy, M.; Canal, A.; Decostre, V.; Diebate, Oumar; Moing, Anne‐Gaëlle Le; Gidaro, T.; Deconinck, Nicolas; Parys, F. Van; Vereecke, W.; Wittevrongel, S.; Mayer, M.; Maincent, Kim; Desguerre, Isabelle; Thémar-Noël, Christine; Cuisset, J.; Tiffreau, V.; Denis, Séverine; Jousten, Virginie; Quijano‐Roy, Susana; Voït, Thomas; Hogrel, Jean‐Yves; Servais, Laurent

doi:10.1371/journal.pone.0113999

Cited by 63 publications

(99 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…5,27 Before 10 years of age, growth and maturation seem to partly compensate for disease progression, 27 as depicted here by an improvement in both strength (grip and pinch) and function (MoviPlate) of ambulatory patients over the 1-year observation period. The increase in MoviPlate score in younger nonambulatory patients, as previously reported, 4 suggests that compensation strategies are still developing at this stage, until the weakness overrides the potential for adaptation. A possible training effect cannot be ruled out, however.…”

Section: Discussionsupporting

confidence: 76%

“…[1][2][3][4][5][6] Other approaches to define surrogate endpoints, such as biomarkers or nuclear magnetic resonance (NMR) imaging (NMRI) and spectroscopy (NMRS), have also been described. Resting-state NMR is equally valuable in examination of upper and lower limbs.…”

Section: Discussionmentioning

confidence: 99%

“…Exclusion criteria were the following: inability to sit upright in a wheelchair for at least 1 hour, severe intellectual impairment preventing full understanding of tests, recent upper limb surgery or trauma, or known immunodeficiency. All patients underwent clinical and functional assessments every 6 months using the Motor Function Measure (MFM; http://www.motor-functionmeasure.org) and the MyoSet devices specifically developed and validated for weak patients 4,5,23 (MyoGrip and MyoPinch for hand grip and key pinch strength and MoviPlate for function). Patients were assessed by NMRS and NMRI annually.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy

et al. 2016

Self Cite

View full text Add to dashboard Cite

Objective: To explore the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy (DMD).Methods: Twenty-five 53-skippable patients with DMD were included in this study; 15 were nonambulatory at baseline. All patients underwent clinical and functional assessments every 6 months using the Motor Function Measure (MFM), hand grip and key pinch strength, MoviPlate, and NMR spectroscopy and imaging studies.Results: Upper limb distal strength decreased in nonambulatory patients over the period of 1 year; ambulatory patients showed improvement during the same period. The same applied for several NMRS indices, such as phosphocreatine/adenosine triphosphate, which decreased in older patients but increased in younger ambulatory patients. Fat infiltration in the upper limbs increased linearly with age. Almost all NMR and functional assessment results correlated. Conclusions:Our results underscore complementarity of functional and NMR assessments in patients with DMD. Sensitivity to change of various indices may differ according to disease stage. MFM 5 Motor Function Measure; NMR 5 nuclear magnetic resonance; NMRI 5 nuclear magnetic resonance imaging; NMRS 5 nuclear magnetic resonance spectroscopy; PCr 5 phosphocreatine; Pi 5 inorganic phosphate; Pia 5 cytosolic inorganic phosphate; Pib 5 anomalous alkaline pool present in dystrophic muscle; PDE 5 phosphodiester; PME 5 phosphomonoester; TR 5 repetition time.

show abstract

Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy

et al. 2016

Self Cite

View full text Add to dashboard Cite

show abstract

“…As for the MFM, the total score and the D1 showed a moderate change over 4 years. This study did not include tests that were subsequently generalized for the evaluation of muscular dystrophies such as the 6‐min walk test or the myoset 38, 39. They would probably be very useful tools in the case of LGMD2A, especially considering the modification of walking perimeter seen in the patients and the very slow progression of the disease.…”

Section: Discussionmentioning

confidence: 99%

Natural history of LGMD2A for delineating outcome measures in clinical trials

Richard

Hogrel

Stockholm

et al. 2016

Ann Clin Transl Neurol

Self Cite

View full text Add to dashboard Cite

ObjectiveLimb‐girdle muscular dystophy 2A (LGMD2A, OMIM) is a slowly progressive myopathy caused by the deficiency in calpain 3, a calcium‐dependent cysteine protease of the skeletal muscle.MethodsIn this study, we carried out an observational study of clinical manifestations and disease progression in genetically confirmed LGMD2A patients for up to 4 years. A total of 85 patients, aged 14–65 years, were recruited in three centers located in metropolitan France, the Basque country, and the Reunion Island. They were followed up every 6 months for 2 years and a subgroup was assessed annually thereafter for two more years. Data collected for all patients included clinical history, blood parameters, muscle strength assessed by manual muscle testing (MMT) and quantitative muscle testing, functional scores, and pulmonary and cardiac functions. In addition, CT scans of the lower limbs were performed in a subgroup of patients.ResultsOur study confirms the clinical description of a slowly progressive disorder with onset in the first or second decade of life with some degree of variability related to gender and mutation type. The null mutations lead to a more severe phenotype while compound heterozygote patients are the least affected. Muscle weakness is remarkably symmetrical and predominant in the axial muscles of the trunk and proximal muscles of the lower limb. There was a high correlation between the weakness at individual muscle level as assessed by MMT and the loss of density in CT scan analysis.InterpretationAll the generated data will help to determine the endpoints for further clinical studies.

show abstract

“…Laurent Servais presented data on his work in developing and validating a new tool for evaluation of distal arm and hand function in nonambulant patients with DMD [32,33]. The MyoPinch, MyoGrip and MOVIPLATE are capable of measuring strength in extremely weak patients and can be used in adult patients.…”

Section: Motor Function and Activity In The Adult With Dmdmentioning

confidence: 99%

206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014

Rahbek¹,

Steffensen²,

Bushby

et al. 2015

Neuromuscular Disorders

View full text Add to dashboard Cite

Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

Cited by 63 publications

References 37 publications

Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy

Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy

Natural history of LGMD2A for delineating outcome measures in clinical trials

206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014

Contact Info

Product

Resources

About