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ABSTRACT: Because it is due to a mutation on the X-chromosome, Duchenne muscular dystrophy rarely affects women, unless there is an unequal lyonisation of the X-chromosome containing the normal dystrophin gene. We report here the unique situation of a symptomatic Duchenne muscular dystrophy woman who was transplanted with myoblasts received from her asymptomatic monozygotic twin sister 20years ago. Specific dynamometry was performed to possibly detect a long-term effect of this cell therapy. Long-term safety of myoblast transplantation was established by this exceptional case. However, long-term efficacy could not be definitively asserted for this patient, in spite of several clues suggesting beneficial effects.
Neuromuscular Disorders 05/2013; · 2.80 Impact Factor
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Dominique Simon,
Corinne Alberti,
Marianne Alison,
Loïc Lehenaff,
Didier Chevenne,
Priscilla Boizeau,
Aurélie Canal,
Gwenn Ollivier,
Valérie Decostre,
Evelyne Jacqz-Aigrain,
Jean-Claude Carel,
Paul Czernichow, Jean-Yves Hogrel
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ABSTRACT: Context: Recombinant growth hormone (rhGH) improves growth and body composition in glucocorticoid-treated children. Its effects on muscle strength are poorly evaluated.Objectives: To evaluate rhGH effects on muscle strength in children receiving long-term glucocorticoid therapy; effects on height SDS and body composition were assessed also.Design and setting:Randomized, controlled, delayed-start study of rhGH for 12 months, started after randomization (M0) or 6 months later (M6).Patients:30 children with various diagnoses.Intervention:rhGH, 0.065 mg/Kg/day for 6 months then in the dosage maintaining serum IGF-1 levels <+2SDS for chronological age.Main outcome measures.The primary criterion was the between-group difference in composite index of muscle strength (CIMS) change at M6. Secondary criteria included between-group differences in CIMS SDS/height, lean mass (LM), thigh muscle area (MA), and height SDS changes at M6; these parameters were also assessed in the overall population after 1 year of rhGH therapy.Results:At M6, rhGH therapy did not significantly affect changes in CIMS or CIMS SDS/height (+17.6% vs. +7.5% and +0.14 ±0.38 vs. +0.11±0.62, respectively); the rhGH-treated group had significantly larger changes in height SDS (+0.2 [0.3] vs. -0.2 [0.3]; P=0.003), LM (+7.3% [+3.7;+21.6] vs. 0% [-4.7;+3.2]; P=0.002), and MA (+8.8% [+5;+15.6] vs. -0.6% [-6.3;+7.7]; P=0.01) compared to the untreated group. After 1 year of rhGH, height SDS, LM, and MA increased significantly, CIMS increased by 24.7% (+5.8; +34.2), and CIMS SDS/height remained within the normal range.Conclusions:rhGH increased height, LM, and MA. However, muscle strength did not improve significantly.
The Journal of clinical endocrinology and metabolism 04/2013; · 6.50 Impact Factor
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ABSTRACT: BACKGROUND: Ankle strength is often impaired in some of the most common neuromuscular disorders. Consequently, strength generated around this joint is important to assess, because it has a great impact on balance and gait. The objectives of this study were to establish normative data and predictive equations for both ankle dorsi- and plantar-flexion strength from a population of healthy subjects (children and adults), to assess the reliability of the measurements and to study the feasibility of using a novel dynamometer on a group of patients with a neuromuscular disorder. METHODS: Measurements of maximal isometric torque for dorsi- and plantar-flexion were performed on 345 healthy subjects from 5 to 80 years of age. The feasibility of the method was tested on nine patients diagnosed with type 2A limb girdle muscular dystrophy. RESULTS: The results documented normal strength values depending on gender and age on ankle dorsi- and plantar-flexion. The reliability of the technique was good with no evaluator effect and a small learning effect. The dynamometer was found suitable in the group of patients, even very weak. CONCLUSIONS: The device developed was both reliable and accurate in assessing both ankle dorsi-flexion and plantar-flexion torque measurements from weak patients and children to strong healthy adults. Norms and predictive equations are provided for these two muscle functions.
BMC Musculoskeletal Disorders 03/2013; 14(1):104. · 1.58 Impact Factor
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ABSTRACT: BACKGROUND: Children with growth retardation or short stature generally present with lower strength than children of the same chronological age. The aim of the study was to establish if strength was dependent on variables related to stature in a population of healthy children and to propose practical predictive models for the muscle functions tested. A secondary aim was to test for any learning effects concerning strength measured at two successive visits by children. METHODS: Hand grip, elbow flexion and extension, and knee flexion and extension were measured by fixed dynamometry in 96 healthy subjects (47 girls and 49 boys, aged from 5 to 17 years). RESULTS: For the present paediatric population, muscle strength was highly dependent on height. Predictive models are proposed for the muscle functions tested. No learning effect between the first and the second visit was detected for any of the muscle functions tested. CONCLUSIONS: This work shows that strength measurements using fixed dynamometry are reliable in children when using appropriate standardization of operating procedures. It underlines the particular relationship between body stature and muscle strength. Predictive equations may help with assessing the neuromuscular involvement in children suffering from various disorders, particularly those affecting their stature.
BMC Musculoskeletal Disorders 09/2012; 13(1):176. · 1.58 Impact Factor
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ABSTRACT: There are currently no effective treatments to restore the muscle function in sporadic inclusion body myositis. Natural history studies of this disease are scarce. The goal of this study consisted in defining the functional pattern of patients with sporadic inclusion body myositis and to follow its change over a 9-month period to determine the most sensitive outcome measures for future clinical trials. Twenty-two patients with definite sporadic inclusion body myositis were assessed using clinical and functional scales. Dynamometry was used to evaluate the strength for hand grip and wrist, elbow, ankle and knee flexion and extension. Among the patients, 16 were reassessed 9months later. The mean whole composite index was at 43.3±16.5% of the predicted normal values. The weakest muscle functions were hand grip, wrist flexion and elbow flexion at the upper limbs and knee extension and ankle flexion at the lower limbs. Muscle weakness was generally asymmetrical, especially for upper limbs where all tested functions were significantly stronger at the dominant side. The patient strength was correlated with the disease duration only for knee extension, which was also the only muscle function to change significantly over 9months. Knee extension strength seems to be the most relevant marker of disease progression in sporadic inclusion body myositis when measured with suitable dynamometry.
Neuromuscular Disorders 06/2012; · 2.80 Impact Factor
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ABSTRACT: We describe a 41-year-old Moroccan woman with phosphofructokinase (PFK) deficiency who presented slowly progressive muscular weakness since childhood, without rhabdomyolysis episode or hemolytic anemia. Deltoid biopsy revealed massive glycogen storage in the majority of muscle fibers and polysaccharide deposits. PFK activity in muscle was totally absent. A novel homozygous non-sense mutation was detected in PFKM gene. Our observation suggests that juvenile-onset fixed muscle weakness may be a predominant clinical feature of PFK deficiency. Vacuolar myopathy with polyglucosan deposits remains an important morphological hallmark of this rare muscle glycogenosis.
Journal of the neurological sciences 02/2012; 316(1-2):173-7. · 2.32 Impact Factor
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Serge Herson,
Faycal Hentati,
Aude Rigolet,
Anthony Behin,
Norma B Romero,
France Leturcq,
Pascal Laforêt,
Thierry Maisonobe,
Rim Amouri,
Hafedh Haddad, [......],
Ariane Herson,
Yves Allenbach,
François M Lemoine,
David Klatzmann,
H Lee Sweeney,
Richard C Mulligan,
Bruno Eymard,
Didier Caizergues,
Thomas Voït,
Olivier Benveniste
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ABSTRACT: γ-Sarcoglycanopathy or limb girdle muscular dystrophy type 2C is an untreatable disease caused by autosomal recessively inherited mutations of the γ-sarcoglycan gene. Nine non-ambulatory patients (two males, seven females, mean age 27 years; range 16-38 years) with del525T homozygous mutation of the γ-sarcoglycan gene and no γ-sarcoglycan immunostaining on muscle biopsy were divided into three equal groups to receive three escalating doses of an adeno-associated virus serotype 1 vector expressing the human γ-sarcoglycan gene under the control of the desmin promoter, by local injection into the extensor carpi radialis muscle. The first group received a single injection of 3 × 10(9) viral genomes in 100 µl, the second group received a single injection of 1.5 × 10(10) viral genomes in 100 µl, and the third group received three simultaneous 100-µl injections at the same site, delivering a total dose of 4.5 × 10(10) viral genomes. No serious adverse effects occurred during 6 months of follow-up. All nine patients became adeno-associated virus serotype 1 seropositive and one developed a cytotoxic response to the adeno-associated virus serotype 1 capsid. Thirty days later, immunohistochemical analysis of injected-muscle biopsy specimens showed γ-sarcoglycan expression in all three patients who received the highest dose (4.7-10.5% positively stained fibres), while real-time polymerase chain reaction detected γ-sarcoglycan messenger RNA. In one patient, γ-sarcoglycan protein was detected by western blot. For two other patients who received the low and intermediate doses, discrete levels of γ-sarcoglycan expression (<1% positively stained fibres) were also detectable. Expression of γ-sarcoglycan protein can be induced in patients with limb girdle muscular dystrophy type 2C by adeno-associated virus serotype 1 gene transfer, with no serious adverse effects.
Brain 02/2012; 135(Pt 2):483-92. · 9.46 Impact Factor
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ABSTRACT: The objective of this study was to evaluate muscle fatigue and tremor during a Sustained Maximal Grip Contraction (SMGC) using the Hilbert-Huang Transformation (HHT). Thirty-nine healthy subjects volunteered for the study and performed a 25-s SMGC. Fatigue parameters such as the relative force output (RFO) were calculated from the residual of SMGC after applying Empirical Mode Decomposition (EMD). Using the energy spectrum of the Intrinsic Mode Functions (IMF) obtained using HHT, isometric force tremor was identified from the 4 to 12 Hz region in IMF3 and IMF4. Data were analysed for five consecutive 5-s epochs to identify changes in fatigue and tremor over time. The HHT method was able to identify a greater resistance to fatigue in women compared to men (p≤0.05) and in non-dominant hands compared to dominant hands (p≤0.05). Consistent with the results for fatigue, women had less tremor than men (p≤0.05), while non-dominant hands trembled less than did dominant hands (p≤0.05). Higher levels of tremor were observed for non-fatigue-resistant subjects for both 10-15 s and 15-20 s epochs (p≤0.05). The HHT is an appropriate method to identify both fatigue and tremor during SMGC. It would be of interest to apply this method to the study the elderly or patients with neuromuscular disorders.
Medical Engineering & Physics 12/2011; 34(7):832-40. · 1.62 Impact Factor
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ABSTRACT: This study aimed to measure the gait abnormalities in GRMD (Golden retriever muscular dystrophy) dogs during growth and disease progression using an ambulatory gait analyzer (3D-accelerometers) as a possible tool to assess the effects of a therapeutic intervention.
Six healthy and twelve GRMD dogs were evaluated twice monthly, from the age of two to nine months. The evolution of each gait variable previously shown to be modified in control and dystrophin-deficient adults was assessed using two-ways variance analysis (age, clinical status) with repeated measurements. A principal component analysis (PCA) was applied to perfect multivariate data interpretation.
Speed, stride length, total power and force significantly already decreased (p<0.01) at the age of 2 months. The other gait variables (stride frequency, relative power distributions along the three axes) became modified at later stages. Using the PCA analysis, a global gait index taking into account the main gait variables was calculated, and was also consistent to detect the early changes in the GRMD gait patterns, as well as the progressive degradation of gait quality.
The gait variables measured by the accelerometers were sensitive to early detect and follow the gait disorders and mirrored the heterogeneity of clinical presentations, giving sense to monitor gait in GRMD dogs during progression of the disease and pre-clinical therapeutic trials.
BMC Musculoskeletal Disorders 01/2011; 12:75. · 1.58 Impact Factor
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4th International Conference on Biomedical Engineering and Informatics, BMEI 2011, Shanghai, China, October 15-17, 2011; 01/2011
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ABSTRACT: The objective of this study was to analyze the correlations between anthropometric data and maximal grip strength (MGS) in order to establish a simple model to predict "normal" MGS. Randomized bilateral measurement of MGS was performed on a homogeneous population of 100 subjects. MGS was measured according to a standardized protocol with three dynamometers (Jamar, Myogrip and Martin Vigorimeter) for both dominant and non-dominant sides. Several anthropometric data were also measured: height; weight; hand, wrist and forearm circumference; hand and palm length. Among these data, hand circumference had the strongest correlation with MGS for all three dynamometers and for both hands (0.789 and 0.782 for Jamar; 0.829 and 0.824 for Myogrip; 0.663 and 0.730 for Vigorimeter). In addition, the only anthropometric variable systematically selected by a stepwise multiple linear regression analysis was also hand circumference. Based on this parameter alone, a predictive regression model presented good results (r(2) = 0.624 for Jamar; r(2) = 0.683 for Myogrip and r(2) = 0.473 for Vigorimeter; all adjusted r(2)). Moreover a single equation was predictive of MGS for both men and women and for both non-dominant and dominant hands. "Normal" MGS can be predicted using hand circumference alone.
Manual therapy 12/2010; 15(6):579-85. · 2.32 Impact Factor
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ABSTRACT: Grip force measurement is routinely used to identify pathologies, evaluate muscular function, and as part of rehabilitation. Grip force has also been shown to be a good indicator of the capacity of elderly to live independently owing to its strong relationship with clinical tests such as the Index of Activities of Daily Living. An autonomous, communicant grip-force measurement device is presented in this paper in order to perform grip-force evaluation at home. The Domo-Grip system consists of the Grip-Ball, the Grip-Box, and Grip-Soft. The Grip-Ball measures the pressure resulting from grip force, the Grip-Box serves as the communication hub, while Grip-Soft is an interactive software suite. The Domo-Grip system can be used as part of a home-based rehabilitation, and also for functional evaluation as part of an assessment of the capacity of elderly to live autonomously.
Conference proceedings: ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference 01/2010; 2010:1308-11.
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Joëlle Micallef,
Shahram Attarian,
Odile Dubourg,
Pierre-Marie Gonnaud, Jean-Yves Hogrel,
Tanya Stojkovic,
Rafaelle Bernard,
Elisabeth Jouve,
Severine Pitel,
Francois Vacherot, [......],
Laurent Jomir,
Eric Azabou,
Mahmoud Al-Moussawi,
Marie-Noelle Lefebvre,
Laurence Attolini,
Sadek Yaici,
Daniel Tanesse,
Michel Fontes,
Jean Pouget,
Olivier Blin
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ABSTRACT: Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy that affects roughly one in 5000 births. No specific therapy currently exists for this degenerative disorder, which is characterised by distal progressive muscle atrophy and sensory loss, although ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of CMT1A. We tested the safety and efficacy of ascorbic acid in adults with CMT1A.
This 12-month, randomised, double-blind, placebo-controlled study was undertaken between September, 2005, and October, 2008. Patients diagnosed with CMT1A according to clinical examination and confirmation by genotyping were randomly assigned in a 1:1:1 ratio to receive 1 g ascorbic acid per day, 3 g ascorbic acid per day, or placebo. Treatment allocation was based on a computer-generated list of random numbers in blocks of 12, with stratification according to study site and sex; all investigators and participants were unaware of treatment allocation. The primary outcome was the Charcot-Marie-Tooth disease neuropathy score (CMTNS) at 12 months. Analysis was by intention to treat. This study is registered with the Orphanet Database, number ORPHA60779.
The median change in CMTNS from baseline to 12 months was 0.5 points (95% CI -0.3 to 1.4) for the placebo group (n=62), 0.7 points (0.0 to 1.4) for the 1 g ascorbic acid group (n=56), and -0.4 points (-1.2 to 0.4) for the 3 g ascorbic acid group (n=61). We did not find any significant difference in these changes between the groups (p=0.14). The occurrence of adverse events did not differ between the groups (p=0.74).
Ascorbic acid at both doses was safe and well tolerated in adults with CMT1A over 12 months. However, there were no significant differences between the groups and the efficacy of ascorbic acid was not shown.
The Lancet Neurology 10/2009; 8(12):1103-10. · 23.46 Impact Factor
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ABSTRACT: Dogs affected with Golden Retriever Muscular Dystrophy (GRMD) exhibit striking clinical similarities with patients suffering from Duchenne muscular dystrophy (DMD), particularly gait impairments. The purpose of this study was to describe the use and reliability of accelerometry in gait assessment of dogs with muscular dystrophy. Eight healthy and 11 GRMD adult dogs underwent three gait assessment sessions, using accelerometry. Three-axial recordings of accelerations were performed, and gait variables calculated. Total power, force and regularity of accelerations, stride length and speed, normalized by height at withers, stride frequency, and cranio-caudal power were significantly decreased, whereas medio-lateral power was significantly increased in GRMD dogs. Moreover, these variables were repeatable within and between sessions. Accelerometry provides reliable variables which highlight specific gait patterns of GRMD dogs, describing objectively and quantitatively their slow, short-stepped, and swaying gait. As it is easy to set-up, quick to perform and inexpensive, accelerometry represents a useful tool, to assess locomotion during pre-clinical trials.
Neuromuscular Disorders 09/2009; 19(11):788-96. · 2.80 Impact Factor
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New England Journal of Medicine 08/2009; 361(4):425-7. · 53.30 Impact Factor
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ABSTRACT: Changes in sensory- motor systems that occur with age result in a decrease in postural equilibrium, which has been linked with an increased risk of falling in the elderly. Stepping down backwards from a step perturbs dynamic postural equilibrium, thus offering an opportunity to analyze the biomechanical parameters underlying the control of balance. The aim of this study was to analyze modifications in motor patterns used by older adult subjects to control equilibrium under the environmental constraint of a backward stepping-down movement.
Ten healthy young adult and 10 healthy older adult subjects with no previous history of falls stepped down backward from a stable position on a force plate 7 cm high, at a spontaneous velocity. Each subject performed five trials, and the mean of all trials was used for subsequent analyses. An ANOVA was performed, with temporal parameters defining the phases of the stepping-down backward movement, center of mass velocity, vertical ground reaction force, impulse, and slope as dependent variables, and subject group as independent variable.
Older adult subjects had a longer total movement duration, a longer phase of anticipatory postural adjustments, and a longer weight-transfer phase than young adult subjects (p<0.05). In contrast, older adults had a shorter relative swing phase than the young adults (p<0.05) and a lower center of mass velocity, impulse and slope (p<0.05) than young adults.
To counterbalance the perturbation of postural equilibrium created by the backward stepping-down movement, older adults decreased the intensity of ground reaction forces and spent correspondingly more time in double-support phases than young adults.
Aging clinical and experimental research 07/2008; 20(3):226-33. · 1.55 Impact Factor
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ABSTRACT: The aim of this study was to analyze differences in biomechanical parameters between elderly and control participants when stepping up, to evaluate control of balance. Eleven control and 14 elderly participants performed a step from an initial static posture onto a 7-cm-high force plate. For the spontaneous-velocity condition, elderly participants performed a slower progression velocity than control participants. Elderly participants spent proportionally more time in stance phase, with a corresponding decrease in swing phase, than the control participants, irrespective of movement velocity. In contrast, at spontaneous velocity the parameters related to ground-reaction force (GRF) showed that anteroposterior and mediolateral forces at toe-off of the support limb and the slope of vertical force during weight transfer were significantly smaller for the elderly than for control participants. These GRF parameters depended on the stepping-up velocity. The elderly develop a spatiotemporal strategy and reduced movement velocity to control support balance.
Journal of aging and physical activity 05/2008; 16(2):171-87. · 2.09 Impact Factor
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Jean-Yves Hogrel,
Christine A Payan,
Gwenn Ollivier,
Véronique Tanant,
Shahram Attarian,
Annabelle Couillandre,
Arnaud Dupeyron,
Lucette Lacomblez,
Valérie Doppler,
Vincent Meininger,
Christine Tranchant,
Jean Pouget,
Claude Desnuelle
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ABSTRACT: To establish a normative database for isometric strength measured by quantitative muscle testing (QMT) for a French adult population.
Measurement of maximal voluntary isometric contraction.
Four clinical centers involved in neuromuscular disorders.
A total of 315 healthy adults (147 men, 168 women) ages 20 to 80 years.
Not applicable.
Isometric torque values of 14 muscle functions (13 bilaterally and neck).
This study led to the development of a French isometric strength normative database for adults measured by QMT. For each muscle function, predictive regression models using age, sex, and weight are proposed. Some methodologic issues concerning strength measurement are discussed.
This database can be used to compute relative deficits in muscle strength for 27 muscle functions and also to estimate composite scores for follow-up of patients either during the natural history of their disease or during a therapeutic trial.
Archives of Physical Medicine and Rehabilitation 11/2007; 88(10):1289-97. · 2.28 Impact Factor
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ABSTRACT: Precise, sensitive muscle strength testing methods are needed to investigate muscle function in patients with neuromuscular disorders (NMD). Here, we describe an isokinetic knee flexor and extensor testing procedure using the Biodex 3's continuous passive motion (CPM) mode. The torque values recorded during passive isokinetic motion were subtracted from the torque values obtained for the same movement with maximal, concentric effort. The aims of the present study were to (i) evaluate the method's reliability in NMD patients presenting mild to severe muscle weakness and (ii) study the relationship between manual muscle testing (MMT) and isokinetic dynamometry. The fifteen participating patients were tested twice; the respective intraclass correlation coefficients (ICCs) for the two sessions ranged from 0.91 to 0.99 for the peak torque, work and power and from 0.50 to 0.90 for the angle at peak torque. The Spearman rho correlation coefficients comparing isokinetic values and MMT values ranged from 0.67 to 0.74 (p<0.01). This reliable, dynamic method appears to be of great value in NMD evaluation when sensitive strength measurement at the knee is required.
Neuromuscular Disorders 07/2007; 17(7):524-31. · 2.80 Impact Factor
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ABSTRACT: Action potentials travel along the muscle fibers with a specific conduction velocity that depends on their structural and functional properties. Only the estimation of muscle conduction velocity distribution (MCVD) may be able to depict this propagation heterogeneity. Based on the method proposed by Cummins et al. (Electroenceph Clin Neurophysiol, 46:647-658, 1979) to estimate nerve conduction velocity distribution (NCVD), the present paper proposes a method that modifies the Cummins' approach to make it suitable for MCVD estimation from electrically evoked motor responses. The MCVD estimation algorithm was first assessed by means of simulated signals in order to control all signal features during the optimization process. Simulations showed that estimated distributions were very close to the true ones when taking into account the specificities of the muscle action potential, due to its generation and extinction (MSE divided by 5 on distribution standard deviation). This method was then applied to real signals. Elicited motor responses were recorded on the biceps brachii of healthy subjects either during repeated maximal stimulations at 20 Hz or during increasing intensity stimulations at 1 Hz. MCVD estimates were used to analyze fatigue and motor unit recruitment processes, respectively.
IEEE Transactions on Biomedical Engineering 05/2006; 53(4):608-16. · 2.28 Impact Factor
