Responsiveness of the Motor Function Measure in Neuromuscular Diseases

Vuillerot, Carole; Payán, C.; Girardot, F.; Fermanian, Jacques; Iwaz, Jean; Bérard, C.; Écochard, René

doi:10.1016/j.apmr.2012.05.025

Cited by 48 publications

(54 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Cano et al 28 recommended that the ES should be interpreted with caution and combined with other statistical methods to avoid misinterpretation 28 . Only six studies investigated the responsiveness of one or more tests for neuromuscular diseases 2,16,17,18,19,29 . Most studies used the ES 18 and SRM 2,16,17 in isolation or in combination 19,29 .…”

mentioning

confidence: 99%

See 1 more Smart Citation

How often should sitting and rising from a chair be evaluated in patients with Duchenne muscular dystrophy?

Hukuda

Caromano

Escórcio

et al. 2017

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

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

show abstract

mentioning

confidence: 99%

“…Studies have shown the relevance of motor function follow up to monitor DMD accurately 2,3,4 . Global motor scales should be complemented by functional tasks assessment because, despite the continued decline in muscle strength, children with DMD continue to perform the activities using compensatory movements 5,6 .…”

mentioning

confidence: 99%

How often should sitting and rising from a chair be evaluated in patients with Duchenne muscular dystrophy?

Hukuda

Caromano

Escórcio

et al. 2017

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…, Mariana C. Voos 1 , Fátima A. Caromano 1 In the last years, the importance of accurate, reliable and sensitive outcome measures in patients with Duchenne muscular dystrophy (DMD) has been outlined 1,2,3 . Motor function is, currently, the main outcome measure (e.g.…”

mentioning

confidence: 99%

“…MFM was validated in Portuguese 5 . It has high reliability and responsiveness 2,4,5 . It assesses motor function and is applicable to both ambulatory and wheelchair-dependent patients.…”

mentioning

confidence: 99%

“…Motor Function Measure, MFM 2,4,5 , six-minute walking test 6 and North Star ambulatory assessment 7,8 ). However, motor function scores can be complemented by clinical measures, such as muscle strength, evaluated by the Medical Research Council scale (MRC) 9,10,11,12,13 , to provide more detailed monitoring of disease progression 2,3 . In DMD, muscle strength is assessed to describe weakness topography and disease progression rate.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Relationship between muscle strength and motor function in Duchenne muscular dystrophy

Nunes

Hukuda

Fávero

et al. 2016

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

Measuring muscle strength and motor function is part of Duchenne muscular dystrophy (DMD) assessment. However, the relationship between these variables is controversial. Objective To investigate the relationship between muscle strength and motor function and between these variables and age. Method Muscle strength was measured by Medical Research Council (MRC) scale and motor function, by Motor Function Measure (MFM), in 40 non-ambulatory patients. Spearman tests investigated the relationships between muscle strength, motor function and age. Results Total MRC and MFM scores were strongly related to each other (r = 0.94; p < 0.001), but not to age (r = -0.19, r = -0.31, respectively; p > 0.05). Strong and moderate relationships between partial muscle strength and motor function scores were found. Higher correlation coefficients were found between total scores and Dimensions 2 (axial/ proximal control) and 3 (distal control) of MFM. Conclusion Muscle strength and motor function are strongly correlated and seem to decrease proportionally in DMD.

show abstract

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

Donkervoort

Mohassel

Laugwitz

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin‐2 (SYT2), is the major isoform expressed at the neuromuscular junction. Recently, dominant missense variants in SYT2 have been reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment. These variants are thought to have a dominant‐negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Here we report seven patients of five families, with biallelic loss of function variants in SYT2, clinically manifesting with a remarkably consistent phenotype of severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings were consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in three patients showed clinical improvement with increased strength and function. This series further establishes SYT2 as a CMS‐disease gene and expands its clinical and genetic spectrum to include recessive loss‐of‐function variants, manifesting as a severe congenital onset presynaptic CMS with potential treatment implications.

show abstract

Responsiveness of the Motor Function Measure in Neuromuscular Diseases

Cited by 48 publications

References 31 publications

How often should sitting and rising from a chair be evaluated in patients with Duchenne muscular dystrophy?

How often should sitting and rising from a chair be evaluated in patients with Duchenne muscular dystrophy?

Relationship between muscle strength and motor function in Duchenne muscular dystrophy

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

Contact Info

Product

Resources

About