Asymmetrical anterior thigh muscle atrophy as an atypical presentation of RYR1-core myopathy

Author(s):  
Guido Primiano ◽  
Fabiana Fattori ◽  
Cristina Sancricca ◽  
Enrico Bertini ◽  
Serenella Servidei
2021 ◽  
Vol 10 (7) ◽  
pp. 1352
Author(s):  
Sandra Agyapong-Badu ◽  
Martin B. Warner ◽  
Dinesh Samuel ◽  
Vasiliki Koutra ◽  
Maria Stokes

A novel approach to ageing studies assessed the discriminatory ability of a combination of routine physical function tests and novel measures, notably muscle mechanical properties and thigh composition (ultrasound imaging) to classify healthy individuals according to age and gender. The cross-sectional study included 138 community-dwelling, self-reported healthy males and females (65 young, mean age ± SD = 25.7 ± 4.8 years; 73 older, 74.9 ± 5.9 years). Handgrip strength; quadriceps strength; respiratory peak flow; timed up and go; stair climbing time; anterior thigh tissue thickness; muscle stiffness, tone, elasticity (Myoton technology), and self-reported health related quality of life (SF36) were assessed. Stepwise feature selection using cross-validation with linear discriminant analysis was used to classify cases based on criterion variable derived from known effects of age on physical function. A model was trained and features selected using 126 cases with 0.92 accuracy (95% CI = 0.86–0.96; Kappa = 0.89). The final model included five features (peak flow, timed up and go, biceps brachii elasticity, anterior thigh muscle thickness, and percentage thigh muscle) with high sensitivity (0.82–0.96) and specificity (0.94–0.99). The most sensitive novel biomarkers require no volition, highlighting potentially useful tests for screening and monitoring effects of interventions on musculoskeletal health for vulnerable older people with pain or cognitive impairment.


1991 ◽  
Vol 5 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Bo Rööser ◽  
Sten Bengtson ◽  
Gunnar Hägglund

2019 ◽  
Vol 2 (3) ◽  
pp. 58 ◽  
Author(s):  
Mechelli ◽  
Arendt-Nielsen ◽  
Stokes ◽  
Agyapong-Badu

The aim of the present study was to determine the validity of ultrasound (US) imaging versus magnetic resonance imaging (MRI) for measuring anterior thigh muscle, subcutaneous adipose tissue (SAT), and fascia thickness. Twenty healthy, moderately active participants (aged 49.1 ± 9.74 [36–64] years), underwent imaging of the anterior thigh, using ultrasound and MRI modalities on the same day. Images were analyzed offline to assess the level of agreement between US and MRI measurements. Pearson’s correlation coefficient showed an excellent relationship between US imaging and MRI for measuring muscle (r = 0.99, p < 0.01), SAT (r = 0.99, p < 0.01), and non-contractile tissue (SAT combined with perimuscular fascia) thickness (r = 0.99, p < 0.01). Perimuscular fascia thickness measurement showed a poor correlation between modalities (r = 0.39, p < 0.01). Intra-class correlation coefficients (ICC3,1) also showed excellent correlation of the measurements with ICC = 0.99 for muscle thickness, SAT, and non-contractile tissue, but not for perimuscular fascia, which showed poor agreement ICC = 0.36. Bland and Altman plots demonstrated excellent agreement between US imaging and MRI measurements. Criterion validity was demonstrated for US imaging against MRI, for measuring thickness of muscle and SAT, but not perimuscular fascia alone on the anterior thigh. The US imaging technique is therefore applicable for research and clinical purposes for muscle and SAT.


1987 ◽  
Vol 57 (2) ◽  
pp. 510-529 ◽  
Author(s):  
J. A. Hoffer ◽  
G. E. Loeb ◽  
W. B. Marks ◽  
M. J. O'Donovan ◽  
C. A. Pratt ◽  
...  

Fine flexible wire microelectrodes chronically implanted in the fifth lumbar ventral root (L5 VR) of 17 cats rendered stable records of the natural discharge patterns of 164 individual axons during locomotion on a treadmill. Fifty-one out of 164 axons were identified as motoneurons projecting to the anterior thigh muscle group. For these axons, the centrifugal propagation of action potentials was demonstrated by the technique of spike-triggered averaging using signals recorded from cuff electrodes implanted around the femoral nerve. The axonal conduction velocity was measured from the femoral nerve cuff records. For 43/51 motoneurons, the corresponding target muscle was identified by spike-triggered averaging of signals recorded from bipolar EMG electrodes implanted in each of the anterior thigh muscles: vastus intermedius, medialis and lateralis, sartorius anterior and medialis, and rectus femoris. For 32/51 motoneurons, the recruitment threshold during locomotion was determined from the mean value of the rectified digitally smoothed EMG of the target muscle measured at the time when the motoneuron fired its first spike for each step. The recruitment threshold of every motoneuron was relatively constant for a given speed of walking, but for some units there were small systematic variations as a function of treadmill speed (range: 0.1-1.3 m/s). Recruitment thresholds were standardized with respect to the mean value of peak EMG activity of the target muscle during 16 s of walking at 0.5 m/s. For 28/51 motoneurons recorded in nine cats, recruitment thresholds (range: 3-93% of peak target muscle EMG) were linearly correlated (r = 0.51, P less than 0.02) to axonal conduction velocities (range: 57-117 m/s). In addition, for seven recorded pairs of motoneurons that projected to the same muscle in the same cat, the recruitment thresholds were ordered by relative conduction velocities. Taken together, these results are consistent with the notion that, in normal cat locomotion up to a medium trot, anterior thigh motoneurons are progressively recruited in an orderly fashion.


2020 ◽  
pp. 1-2
Author(s):  
A.M. Ata ◽  
M. Kara ◽  
L. Özçakar

We have read with great interest the recently published article by Tsukasaki et al (1). We congratulate the authors for drawing attention to regional muscle mass measurements for evaluating sarcopenia. As they highlighted, age-related muscle loss occurs initially in the anterior thigh muscles that predominantly contain fast-twitch (type II) fibers (2). Therefore, regional muscle mass and functional assessments are important for the early diagnosis and follow-up of sarcopenia (2). In this regard, computed tomography (CT), magnetic resonance imaging, ultrasound (US) and dual-energy X-ray absorptiometry (DXA) techniques give opportunity for regional muscle mass measurements. Likewise, the authors compared the relationships among regional/total muscle mass measurements, muscle power, strength and performance tests. Although we agree with them in general, we would like to add further.


2020 ◽  
Vol 68 (8) ◽  
pp. 1878-1879 ◽  
Author(s):  
Ayşe Merve Ata ◽  
Murat Kara ◽  
Bayram Kaymak ◽  
Levent Özçakar
Keyword(s):  

1985 ◽  
Vol 54 (3) ◽  
pp. 549-564 ◽  
Author(s):  
G. E. Loeb ◽  
J. A. Hoffer ◽  
C. A. Pratt

The naturally occurring activity patterns of anterior thigh muscle spindle afferents were recorded during unrestrained treadmill locomotion by means of floating microelectrodes chronically implanted in the fifth lumbar dorsal root ganglion. Conduction velocity of units from primary and secondary endings was determined by spike-triggered averaging of the signals from a chronically implanted nerve cuff. Activity from knee extensor muscle spindles generally occurred during periods of muscle lengthening, but was often greater for small stretches when the muscle was active (during stance phase of walking) than for larger stretches when the muscle was passive (swing phase), indicating fusimotor enhancement of spindle sensitivity in phase with extrafusal muscle recruitment. Activity from spindles in biarticular muscles acting across the knee and hip was more variable and complex than that seen in the pure knee extensors, and frequently included activity during rapid muscle shortening (swing phase) indicative of strong static fusimotor input. Changes in speed of gait caused changes in the range and velocity of muscle length excursions monitored by chronically implanted length gauges, but such changes were accompanied by only modest changes in spindle afferent activity, suggesting concurrent and compensatory changes in fusimotor influence on spindles. Activity from spindle secondary endings was generally lower, more regular, and less velocity dependent than that from primary endings, consistent with their lack of input from the dynamic fusimotor apparatus. The activity of all spindle afferents studied was similarly well modulated during extrafusal activity of the parent muscles, regardless of the kinematic conditions of muscle length and velocity during which this muscle work occurred. This suggests that the fusimotor apparatus is well orchestrated to regulate the static and dynamic sensitivity of primary spindle afferents at levels appropriate to the anticipated motion.


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