Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy

Bendixen, Roxanna; Butrum, J.; Jain, Mina; Parks, Randolph W.; Hodsdon, Bonnie; Nichols, Carmel; Hsia, Michelle; Nelson, Leslie; Keller, K.; McGuire, Michelle; Elliott, J.P.; Linton, Melody M.; Arveson, I.; Tounkara, F.; Vasavada, Ruhi; Harnett, Elizabeth; Punjabi, Monal; Donkervoort, Sandra; Dastgir, Jahannaz; Leach, M.; Rutkowski, Anne; Waite, Mitchell; Collins, James J.; Bönnemann, Carsten G.; Meilleur, K.

doi:10.1016/j.nmd.2016.11.017

Cited by 9 publications

(18 citation statements)

References 19 publications

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“…The combination of severe head/trunk flexor weakness with prevalent upper girdle involvement from onset 11,31 in association with raised CK levels, represents valid diagnostic handles for LAMA2‐RD and warrants for use of functional scales specific for axial strength and upper limb function. The D2 domain of the Motor Function Measure (MFM) 32 scale 33 covers axial and proximal motor capacity and is sensitive to yearly changes in patients >5 years, but further validation in younger populations is required.…”

Section: Discussionmentioning

confidence: 99%

“…11,[15][16][17][18] While few cross-sectional studies explored the genotype/pathology phenotype correlation, 12,[19][20][21] long-term retrospective or prospective natural history data are limited. As novel therapeutic approaches are getting closer to clinical application, [22][23][24][25][26][27][28][29] it is crucial to fully clarify the natural history, rate of progression of muscle weakness, 30,31 occurrence of complications and time at intervention for disease-related complications, to help identify the most valid and reliable outcome measure for LAMA2-RD.…”

Section: Introductionmentioning

confidence: 99%

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LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Zambon

Ridout

Main

et al. 2020

Ann Clin Transl Neurol

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Objective: To characterize natural history of Laminin-a2 related muscular dystrophies (LAMA2-RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering. Methods: We conducted a retrospective, single-center, cross-sectional and longitudinal study on 46 LAMA2-RD pediatric patients (37 families). Patients were seen at the Dubowitz Neuromuscular Centre, London between 1985 and 2019. Data were collected by case note reviews. Time-to-event analysis was performed to estimate median age at complications occurrence. Results: Forty two patients had complete deficiency of Laminin-a2 (CD) and four had partial deficiency (PD). Median age at first and last assessment was 2 years and 12.1 years, respectively. Median follow-up length was 7.8 years (range 0-18 years). Seven CD patients died at median age 12 years. One CD and two PD subjects achieved independent ambulation. We observed a linear increase in elbow flexor contractures in CD subjects. Thirty-two CD and one PD patient developed scoliosis, nine underwent spinal surgery. Twenty-two CD required nocturnal noninvasive ventilation (median age 11.7 years). CD subjects showed a 2.9% linear annual decline in forced vital capacity % predicted. Nineteen CD and one PD patient required gastrostomy insertion for failure to thrive and/or unsafe swallow (median age 10.9 years). Four CD patients had partial seizures. Mild left cardiac ventricular dysfunction and rhythm disturbances were identified in seven CD patients. Interpretation: This retrospective longitudinal study provides longterm natural history of LAMA2-RD. This will help management and identification of key milestones of disease progression that could be considered for future therapeutic intervention.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Zambon

Ridout

Main

et al. 2020

Ann Clin Transl Neurol

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“…Motor Function Measure‐32 has been used in several NMD studies, specifically to assess motor function and disease severity and progression . Participants in this study exhibited the greatest difficulty performing activities in the standing and transfers domain (D1), whereas axial (D2) and distal (D3) motor functions were mostly preserved.…”

Section: Discussionmentioning

confidence: 99%

“…The MFM‐32 is a 32‐item scale that quantitates functional capabilities in individuals with neuromuscular disorders . The MFM‐32 has been validated in the congenital muscular dystrophy, congenital myopathy, spinal muscular atrophy, and limb girdle muscular dystrophy populations .…”

Section: Methodsmentioning

confidence: 99%

Motor function performance in individuals with RYR1‐related myopathies

et al. 2019

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Introduction The objective of this study was to obtain a 6‐month natural history of motor function performance in individuals with RYR1 ‐ related myopathy ( RYR1‐ RM) by using the Motor Function Measure‐32 (MFM‐32) and graded functional tests (GFT) while facilitating preparation for interventional trials . Methods In total, 34 participants completed the MFM‐32 and GFTs at baseline and 6‐month visits. Results Motor deficits according to MFM‐32 were primarily observed in the standing and transfers domain (D1; mean 71%). Among the GFTs, participants required the most time to ascend/descend stairs (>7.5 s). Functional movement, determined by GFT grades, was strongly correlated with MFM‐32 (D1; r ≥ 0.770, P < 0.001). Motor Function Measure‐32 and GFT scores did not reflect any change in performance between baseline and 6‐month visits. Discussion The MFM‐32 and GFTs detected motor impairment in RYR1 ‐RM, which remained stable over 6 months. Thus, these measures may be suitable for assessing change in motor function in response to therapeutic intervention. Muscle Nerve 60 : 80–87, 2019

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“…Patients with SMA were the second most prevalent group and two disease‐specific instruments were identified 37,44,50–52 . Patients with congenital muscular dystrophy were assessed exclusively by one instrument 47,48 . The other seven instruments were used to evaluate different types of NMDs 9,16,19,27–31,33,36,38–46,49,53–55,58 …”

Section: Resultsmentioning

confidence: 99%

Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review

Davoli¹,

Cardoso²,

Silva³

et al. 2021

Develop Med Child Neuro

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Aim To synthesize clinical and scientific evidence regarding the instruments available to assess upper‐limb function in paediatric patients with neuromuscular disease (NMD). Method This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses and COnsensus‐based Standards for the selection of health Measurement INstruments (COSMIN) guidelines (Prospective Registry of Systematic Reviews no. CRD42020140343). Two independent reviewers searched the PubMed/MEDLINE, LILACS, Embase, and Scopus databases. Inclusion criteria were cross‐sectional or longitudinal studies or randomized controlled trials that used scales or questionnaires to assess upper‐limb function in paediatric patients with NMDs. The COSMIN Risk of Bias checklist and criteria for good measurement properties were applied to assess the methodological quality of the instruments. Results In total, 34 articles and 12 instruments were included. The Brooke Upper Extremity (n=16) and Performance of Upper Limb (PUL) (n=12) instruments were the most used tools. The PUL and Duchenne muscular dystrophy (DMD) Upper Limb patient‐reported outcome measures (PROMs) tested more measurement properties and provided higher methodological quality scores for patients with DMD. Likewise, the Revised Upper Limb Module (RULM) was the most suitable instrument for patients with spinal muscular atrophy. No instrument has been devised to assess upper‐limb function in patients with Charcot–Marie–Tooth disease and no other disease‐specific instruments were found. Interpretation The PUL, DMD Upper Limb PROM, and RULM are the most suitable instruments to assess upper‐limb function in the two most prevalent paediatric NMDs. The identified gaps and methodological flaws of the available instruments indicate a need to develop high‐quality instruments to assess other types of paediatric NMDs. The most suitable observer–rater instrument to assess upper‐limb function in Duchenne muscular dystrophy (DMD) is the Performance of Upper Limb. The most suitable observer–rater instrument to assess upper‐limb function in spinal muscular atrophy is the Revised Upper Limb Module. The DMD Upper Limb patient‐reported outcome measure is recommended to assess the upper‐limb performance of patients with DMD. Literature gaps and methodological flaws indicate the need to develop high‐quality instruments to assess other types of paediatric neuromuscular disease.

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Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy

Cited by 9 publications

References 19 publications

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Motor function performance in individuals with RYR1‐related myopathies

Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review

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