A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

Hashizume, Akira; Katsuno, Masahisa; Suzuki, Keisuke; Banno, Haruhiko; Suga, Noriaki; Mano, Tomoo; Araki, Atsuko; Hijikata, Yasuki; Grunseich, Christopher; Kokkinis, Angela; Hirakawa, Akihiro; Watanabe, Haruo; Yamamoto, Masahiko; Fischbeck, Kenneth H.; Sobue, Gen

doi:10.1016/j.nmd.2015.03.008

Cited by 57 publications

(62 citation statements)

References 36 publications

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“…However, we observed no significant correlations between %PEF and bulbar, upper limb, or respiratory subscores. The lack of correlation between the respiratory domain of SBMAFRS and %PEF or %FVC appears to stem from the fact that most subjects were at relatively early stages of the disease and reported no overt dyspnea on the functional scales [13]. The total scores and subscores of SBMAFRS correlated more strongly with %PEF than %FVC.…”

Section: Resultsmentioning

confidence: 99%

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Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

et al. 2016

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The aim of this study was to characterize the respiratory function profile of subjects with spinal and bulbar muscular atrophy (SBMA), and to explore the underlying pathological mechanism by comparing the clinical and biochemical indices of this disease with those of amyotrophic lateral sclerosis (ALS). We enrolled male subjects with SBMA (n = 40) and ALS (n = 25) along with 15 healthy control subjects, and assessed their respiratory function, motor function, and muscle strength. Predicted values of peak expiratory flow (%PEF) and forced vital capacity were decreased in subjects with SBMA compared with controls. In SBMA, both values were strongly correlated with the trunk subscores of the motor function tests and showed deterioration relative to disease duration. Compared with activities of daily living (ADL)-matched ALS subjects, %PEF, tongue pressure, and grip power were substantially decreased in subjects with SBMA. Both immunofluorescence and RT-PCR demonstrated a selective decrease in the expression levels of the genes encoding the myosin heavy chains specific to fast-twitch fibers in SBMA subjects. The mRNA levels of peroxisome proliferator-activated receptor gamma coactivator 1-alpha and peroxisome proliferator-activated receptor delta were up-regulated in SBMA compared with ALS and controls. In conclusion, %PEF is a disease-specific respiratory marker for the severity and progression of SBMA. Explosive muscle strength, including %PEF, was selectively affected in subjects with SBMA and was associated with activation of the mitochondrial biogenesis-related molecular pathway in skeletal muscles.

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Section: Resultsmentioning

confidence: 99%

“…SBMAFRS is a validated disease-specific functional scale for SBMA that demonstrates a high sensitivity for monitoring disease progression [13]. The validity of the motor functional measurements we used for SBMA is described in the S1 Methods.…”

Section: Methodsmentioning

confidence: 99%

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

et al. 2016

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“…9,15 The SBMAFRS is a questionnaire-based scale consisting of subscales related to bulbar function upper limb, trunk, lower limb, and breathing. 9,15 The SBMAFRS is a questionnaire-based scale consisting of subscales related to bulbar function upper limb, trunk, lower limb, and breathing.…”

Section: Clinical Evaluationmentioning

confidence: 99%

Disease progression and outcome measures in spinobulbar muscular atrophy

Dahlqvist

Fornander

Borch

et al. 2018

Annals of Neurology

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Objective: Spinal and bulbar muscular atrophy (SBMA) is a slowly progressive disease with weakness of bulbar and extremity muscles. There is no curative treatment for the disease, but several clinical trials have been conducted over the past years. The results from these trials have uncovered a great need to develop quantitative, reliable outcome measures. In this study, we prospectively investigated disease progression over 18 months in 29 patients with genetically confirmed SBMA, using quantitative outcome measures, including Dixon magnetic resonance imaging (MRI). Methods: We used MRI to assess changes in muscle fat content and stationary dynamometry to assess changes in muscle strength. Disease progression was also investigated with the SBMA functional rating scale, bulbar rating scale, 6-minute walk test, and blood samples, among others. Results: Mean muscle fat content, muscle strength in knee extensors, handgrip strength, walking distance, and creatinine levels changed significantly. Mean muscle fat content increased by 2 ± 1.25%, and knee extension strength decreased from 83 ± 60 to 76 ± 56Nm, handgrip strength from 31 ± 13 to 29 ± 13kg, walking distance from 362 ± 216 to 336 ± 219m, and creatinine level from 58 ± 21 to 54 ± 20 μmol/l. Functional rating scores did not change.Interpretation: The present study demonstrates a slow and steady disease progression in SBMA. Dixon MRI detected increases in muscle fat content in all investigated muscles and is therefore a suitable candidate for an outcome measure in natural history or treatment studies in SBMA. The 6-minute walk test and handgrip strength also seem to be reliable outcome measures for SBMA. ANN NEUROL 2018;84:762-773 View this article online at wileyonlinelibrary.com.

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“…Pharyngeal barium residue and times of piecemeal deglutition (multiple repeated swallows) were measured blindly by two independent evaluators as described previously. To evaluate the validity of the measurements, the SBMA functional rating scale (SBMAFRS),18 SWAL‐QOL symptom subscores,19, 20 and Swallowing Disturbance Questionnaire–Japanese (SDQ‐J) were used 21, 22. Data were analyzed by intraclass correlation (1, 1) for reproducibility and Spearman's rank correlation for validity.…”

Section: Methodsmentioning

confidence: 99%

Swallowing markers in spinal and bulbar muscular atrophy

Banno

Katsuno

Suzuki

et al. 2017

Ann Clin Transl Neurol

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ObjectiveWe examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis.MethodsA videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age‐ and sex‐matched healthy controls. Swallowing of 3‐mL liquid barium was analyzed by the Logemann's Videofluorographic Examination of Swallowing worksheet.ResultsOf more than 40 radiographic findings, the most pertinent abnormal findings in patients with spinal and bulbar muscular atrophy, included vallecular residue after swallow (residue just behind the tongue base), nasal penetration, and insufficient tongue movement (P < 0.001 for each) compared with healthy controls. Quantitative analyses showed that pharyngeal residue after initial swallowing, oral residue after initial swallowing, multiple swallowing sessions, and the penetration–aspiration scale were significantly worse in these patients (P ≤ 0.005 for each) than in controls. In patients with spinal and bulbar muscular atrophy, laryngeal penetration was observed more frequently in those without subjective dysphagia.InterpretationDysphagia of spinal and bulbar muscular atrophy was characterized by impaired tongue movement in the oral phase and nasal penetration followed by pharyngeal residues, which resulted in multiple swallowing sessions and laryngeal penetration. Although major limitations of reproducibility and radiation exposure still exist with videofluoroscopy, pharyngeal residue after initial swallowing and the penetration–aspiration scale might serve as potential outcome measures in clinical studies.

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A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

Cited by 57 publications

References 36 publications

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

Disease progression and outcome measures in spinobulbar muscular atrophy

Swallowing markers in spinal and bulbar muscular atrophy

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