North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathy

James, M.; Mayhew, A.; Eagle, M.; Lofra, Robert Muni; Maron, Elke; Gee, Richard; Harman, Mehmet; Duong, Trinh; Vandevelde, Bruno; Siener, C.; Thiele, Simone; Méndez, J.; Canal, A.; Sakamoto, Chiaki; Holsten, Scott; Pedrosa-Hernández, Irene; Semplicini, Claudio; Lowes, L.; Bushby, K.; Straub, V.

doi:10.1016/j.nmd.2017.06.191

Cited by 2 publications

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“…The NSAD score is a dysferlinopathy specific functional scale of motor performance, developed using RASCH analysis, which demonstrates measurable change over one year in Dysferlinopathy [13] . The scale comprises 29 tasks involving both upper and lower limbs, testing proximal and distal muscle function.…”

Section: Nsad Scorementioning

confidence: 99%

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Moore

Gordish

Díaz‐Manera

et al. 2021

Neuromuscular Disorders

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This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing predominant distal lower limb weakness. We used heatmaps, regression analysis and principle component analysis of functional and Magnetic Resonance Imaging data * Corresponding author.

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Section: Nsad Scorementioning

confidence: 99%

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Moore

Gordish

Díaz‐Manera

et al. 2021

Neuromuscular Disorders

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“…The Jain International Clinical Outcome Study (COS) of Dysferlinopathy was established to address the lack of comprehensive natural history data for dysferlinopathy and to identify and, if necessary, develop appropriate outcome measures for monitoring disease progression. Using data from 3 years of follow‐up, the aims of this paper are: part 1) describe the development of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD; formally the North Star Assessment for Dysferlinopathy), 19 part 2) report on its ability to detect change over a 1 year period, and part 3) describe longitudinal disease progression to inform clinical prognostication and identify patients best suited for inclusion in clinical trials.…”

mentioning

confidence: 99%

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

Jacobs

James

Lowes

et al. 2021

Annals of Neurology

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Objective Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale and identify factors that influence the rate of disease progression using NSAD. Methods We collected a longitudinal series of functional assessments from 187 patients with dysferlinopathy over 3 years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and nonambulant patients. Generalized estimating equations were used to evaluate the impact of patient factors on outcome trajectories. Results The NSAD detected significant change in clinical progression over 1 year. The steepest functional decline occurred during the first 10 years after symptom onset, with more rapid decline noted in patients who developed symptoms at a younger age (p = 0.04). The most rapidly deteriorating group over the study was patients 3 to 8 years post symptom onset at baseline. Interpretation The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinical practice and clinical trials. Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short‐term for clinical trial preparation. Through further work and validation in this cohort, we anticipate that a disease model incorporating functional performance will allow for more accurate prognosis for patients with dysferlinopathy. ANN NEUROL 2021;89:967–978

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North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathy

Cited by 2 publications

References 0 publications

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale

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