Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.

In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. A national strategy was adopted during a period of 1 to 2months concerning treatments usually administered in hospitalization. NM patients treated with steroid/immunosuppressants for a dysimmune pathology should continue all of their treatments in the absence of any manifestations suggestive of COVID-19. A frequently asked questions (FAQ) sheet has been compiled and updated on the FILNEMUS website. Various support systems for self-rehabilitation and guided exercises have been also provided on the website. In the context of NM diseases, particular attention must be paid to two experimental COVID-19 treatments, hydroxycholoroquine and azithromycin: risk of exacerbation of myasthenia gravis and QT prolongation in patients with pre-existing cardiac involvement. The unfavorable emergency context related to COVID-19 may specially affect the potential for intensive care admission (ICU) for people with NMD. In order to preserve the fairest medical decision, a multidisciplinary working group has listed the neuromuscular diseases with a good prognosis, usually eligible for resuscitation admission in ICU and, for other NM conditions, the positive criteria suggesting a good prognosis. Adaptation of the use of noninvasive ventilation (NIV) make it possible to limit nebulization and continue using NIV in ventilator-dependent patients.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

OBJECTIVE: Mutations in one of the 3 genes encoding collagen VI (COLVI) are responsible for a group of heterogeneous phenotypes of which Bethlem myopathy (BM) represents the milder end of the spectrum. Genotype-phenotype correlations and long-term follow-up description in BM remain scarce. METHODS: We retrospectively evaluated the long-term clinical evolution, and genotype-phenotype correlations in 35 genetically identified BM patients (23 index cases). RESULTS: Nineteen patients showed a typical clinical picture with contractures, proximal weakness and slow disease progression while 11 presented a more severe evolution. Five patients showed an atypical presentation, namely a limb girdle muscle weakness in 2 and a congenital myopathy pattern with either no contractures, or only limited to ankles, in 3 of them. Pathogenic COL6A1-3 mutations were mostly missense or in frame exon-skipping resulting in substitutions or deletions. Twenty one different mutations were identified including 12 novel ones. The mode of inheritance was, autosomal dominant in 83% of the index patients (including 17% (N=4) with a de novo mutation), recessive in 13%, and undetermined in one patient. Skipping of exon 14 of COL6A1 was found in 35% of index cases and was mostly associated with a severe clinical evolution. Missense mutations were detected in 39% of index cases and associated with milder forms of the disease. CONCLUSIONS: Long-term follow-up identified important phenotypic variability in this cohort of 35 BM patients. However, worsening of the functional disability appeared typically after the age of 40 in 47% of our patients, and was frequently associated with COL6A1 exon 14 skipping.

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]. / Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données.

The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD database. The collection of 70,000 clinical data for 600 patients with an average longitudinal follow-up of 12years enabled clarification of the natural history of Duchenne and Becker muscular dystrophies and clinical presentations in symptomatic females. We were able to specify the phenotypic heterogeneity of motor, orthopedic and respiratory involvements (severe, standard and intermediary form), of the cardiac disorder (severe, standard or absent cardiomyopathy, absence of correlation between motor and cardiac involvements), and of brain function (mental deficiency in the patients with Becker muscular dystrophy, psychopathological disorders in dystrophinopathies). Phenotypic variability did not correlate with a specific mutational spectrum. We propose a model of phenotypic analysis based on the presence or not of muscular and cardiac involvements (described by age at onset and rate of progression) and brain involvement (described by the type and the severity of the cognitive impairment and of the psychological disorders). The methodology developed for the DMD gene can be generalized and used for other databases dedicated to genetic diseases. Application of this model of phenotypic analysis for each patient and further development of the database should contribute substantially to clinical research providing useful tools for future clinical trials.

Efficacy of intensive, hospital-based rehabilitation in cases of thoracic outlet syndrome that failed to respond to private-practice physiotherapy.

BACKGROUND: Rehabilitation is currently the preferred first-line treatment for thoracic outlet syndrome (TOS). When physiotherapy fails, the next treatment option is usually surgery - a complex procedure with potential complications. OBJECTIVE: We sought to establish whether an intensive, multidisciplinary, day-hospital-based rehabilitation programme could reduce the symptoms of TOS after the failure of private-practice physiotherapy and before surgery was considered. METHODS: We performed a retrospective, single-centre study of 63 TOS patients admitted to our day hospital for 3 weeks (15 therapy sessions) between 2003 and 2014. The data were extracted from hospital records or gathered in a phone interview. RESULTS: Immediately after discharge, the observed improvements in hand function were related to lifting a load, reaching a high shelf, sweeping the floor, cleaning windows, and combing hair. Three months after the end of the intensive rehabilitation program, 80% of the patients reported a reduction in their symptoms. Forty-one of the 63 patients were subsequently contacted by phone. The mean time interval between the end of the rehabilitation programme and the phone interview was 4.5 years (median: 3.5 years; range: 1-12 years). Twenty-seven patients (66%) reported a worsening in hand function, and 25% had undergone surgery. Twenty-three patients had kept the same job, 7 had changed jobs after retraining, 4 had stopped working before the programme but were able to return to work afterwards (including one patient in a part-time job), 4 had not returned to work, and 3 received disability benefits. CONCLUSION: An intensive, multidisciplinary, hospital-based rehabilitation programme was associated with improvements in the great majority of patients with TOS - even after private-practice physiotherapy had failed.

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

AIMS: Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic complications in patients with heterozygous LMNA mutations at the 482nd codon, the 'hotspot' for partial lipodystrophy, with carriers of other, non-R482 LMNA mutations. METHODS AND RESULTS: This study included 29 patients with R482 LMNA mutations, 29 carriers of non-R482 LMNA mutation and 19 control subjects. Cardiac and metabolic phenotypes were compared between groups. A family history of either cardiac implantable electronic devices (CIEDs; P < 0.001) or sudden death (P < 0.01) was more frequent in non-R482 than R482 carriers. The non-R482 carriers also had more abnormalities on electrocardiography and received CIEDs more often than R482 carriers (P < 0.001). On cardiac ultrasound, non-R482 patients had greater frequencies of left atrial enlargement (P < 0.05) and lower left ventricular ejection fractions (P < 0.01) than R482 carriers. In contrast, R482 carriers had lower BMI (P < 0.05), leptin (P < 0.01) and fat mass (P < 0.001), but higher intra-/total abdominal fat-mass ratios (P < 0.001) and prevalences of diabetes (P < 0.01) and hypertriglyceridaemia (P < 0.05) than non-R482 carriers, with a trend towards more coronary artery disease. However, non-R482 carriers had higher intra-/total abdominal fat-mass ratios (P < 0.02) and prevalences of diabetes (P < 0.001) and hypertriglyceridaemia (P < 0.05) than the controls. CONCLUSION: Non-R482 carriers present more frequently with arrhythmias than R482 carriers, who twice as often have diabetes, suggesting that follow-up for laminopathies could be adjusted for genotype. Non-R482 mutations require ultra-specialized cardiac follow-up, and coronary artery disease should not be overlooked. Although overlapping phenotypes are found, LMNA mutations essentially lead to tissue-specific diseases, favouring genotype-specific pathophysiological mechanisms.

[Short- and midterm effectiveness of a back school. Retrospective cohort study on 328 patients with chronic low back pain from 1997 to 2004]. / Efficacité à court- et moyen terme d'un programme d'école du dos. Etude de cohorte rétrospective réalisée sur 328 lombalgiques chroniques de 1997 à 2004.

OBJECTIVES: To assess the short- and midterm effects of a back school programme on patients with chronic low back pain. To determine positive factors to the effectiveness of back school. METHODS: A retrospective cohort study about 328 chronic low back pain patients who participated to back school from 1997 to 2004. One hundred and thirty-two patients had comparative study at six months. The descriptive study used the "before and after" method. Logistic regression analysis was performed to evaluate factors statistically associated with improvement of pain and functional, social and occupational status. RESULTS: The six months results showed effectiveness of back school on pain and functional status. The impact on quality of life was low. It made reduction of the period of sick leave but not recurrence of them. Predictors to effectiveness of back school were identified: to be young and to have regular physical activity. To be anxious, overweight and to receive worker's compensation were devafourable factors to effectiveness of back school. CONCLUSION: Even if the number of lost to follow up is high, these results are encouraging. A long-term follow-up is necessary to confirm the initial benefits of back school. We although have to assess the role of physical activity in mid-term effectiveness of this back school.

[Fusion and function after eight scapulothoracic arthrodesis]. / Consolidation et fonction après huit arthrodèses scapulothoraciques.

PURPOSE OF THE STUDY: Scapula alata resulting from a deficient musculus serratus anterior leads to shoulder instability, pain and loss of elevation. Etiologies include fascioscapulohumeral dystrophy and lesion of the thoracicus longus nerve. Dynamic (muscle transfer) or static (scapulopexia or scapulothoracic arthrodesis) stabilization methods can be proposed. The purpose of this study was to assess fusion and function after eight scapulothoracic arthrodeses performed in five patients. We used cerclage with compression after intercostal avivement to increase the contact surface. MATERIAL AND METHODS: This retrospective study included four men and one woman. Three patients had fascioscapulohumeral dystrophy who underwent bilateral arthrodeses and two patients with post-traumatic injury to one thoracicus longus nerve. All scapulothoracic joints were unstable; six were painful. There was a cosmetic prejudice in all cases. Preoperative function was 71+/-6 degrees antepulsion (range: 60-80 degrees ) and 71+/-7 degrees abduction (range: 60-80 degrees ). Postoperative assessment included: reduction of the scapula alata, gain in motion, Constant score (raw and weighed), subjective assessment of daily activity, complications, respiratory function in patients with double arthrodesis and bone fusion on the CT scan. RESULTS: Patient follow-up was 21.5 months on average. The scapula alata was reduced in all cases. Mean gain in motion was 39+/-21 degrees antepulsion and 41+/-26 degrees abduction. The raw Constant score was 77.75+/-11.4/100 and the weighted score was 81.5+/-9.1/100. Daily activity was scored 100% in four of five patients. Complications were transient intercostal dysesthesia, mild exercise-induced pain, one pneumothorax which did not require drainage. There was no evidence of an impact on respiratory function. The control scans revealed fusion in five shoulders and nonunion in three. DISCUSSION: Scapulothoracic arthrodesis enabled reduction of the scapula alata and improved shoulder function for elevation and daily activities. The gain in motion and Constant score were satisfactory and similar to other results in the literature. The main drawback was deficient external rotation. Pain was mild and resulted from the deafferentation. It resolved six months postoperatively. Secondary exercise-related pain was mild with little impact. Technically, authors have proposed using different ribs for the fusion, depending on the patient's morphology and searching for a good position for the scapula for external rotation. There have been few postoperative complications: we had one pneumothorax and no neurological, vascular or pulmonary complications. Our results are the first reporting CT fusion findings. Indirect signs of nonunion on plain x-rays reported in earlier studies are not fully reliable, since our CT scans demonstrated nonunion in three shoulders. The lack of fusion does not mean poor function, as was also noted by others, since function was improved (mean gain 27 degrees flexion and 25 degrees abduction).

[Isokinetic trunk strength testing in chronic low back pain. The role of habituation and training to improve measures]. / Evaluation isocinétique chez le lombalgique. Rôle respectif de la familiarisation et de la rééducation dans l'évolution des performances.

UNLABELLED: Isokinetic dynamometers put subjects in very different conditions from natural movement. Familiarization with the isokinetic device may therefore explain better performance without showing any improvement in strength. OBJECTIVE: To determine the part of habituation and training in improved trunk isokinetic performance on isometric assessment after a back rehabilitation program for chronic low back pain. METHODS: A total of 26 patients with chronic low back pain consecutively admitted to the same rehabilitation department for a 4-week rehabilitation program underwent isometric assessment of the trunk flexors and extensors on the day of admission and 2 days and 21 days after admission. The maximal torque and total work were registered at 30 degrees , 90 degrees and 120 degrees/s. RESULTS: Values for all parameters, except flexor values at 30 degrees/s, were significantly improved between day 0 and day 2 after admission. Between day 2 and day 21 after admission, values for all parameters were improved significantly. Except for flexor values at 30 degrees/s, the parameter values at day 2 showed improvement ranging from 33% to 58% of the improvement seen at day 21. DISCUSSION: The improvement in parameter values found on isokinetic assessment two days after a one-day rehabilitation program for low back pain is probably explained by a habituation effect. We can expect that increase in the maximal torque and total work after 3 weeks of rehabilitation is, at least in part, the consequence of the strengthening program. CONCLUSION: We should interpret with caution the results of studies involving an isokinetic dynamometer to measure the strength of trunk muscles without a learning training.

The value of individual or collective group exercise programs for knee or hip osteoarthritis. Clinical practice recommendations.

OBJECTIVE: To develop clinical practice guidelines concerning individual and group exercise therapy for knee and/or hip osteoarthritis (OA). METHOD: We used the SOFMER (French Physical Medicine and Rehabilitation Society) methodology, combining systematic literature review, collection of everyday clinical practice, and external review by a multidisciplinary expert panel, to develop the guidelines. RESULTS: Physical exercises are proposed for knee and hip OA. The benefit of individual exercises is low to moderate for pain, strength and ability to walk. The effectiveness is not maintained over time if the individual exercise program is not continued. The benefit of group exercise is also low to moderate for pain, strength, balance and ability to walk. There is no evidence of the superiority of one modality over the other (individual or group). CONCLUSION: More randomised controlled trials with good methodology are needed to compare the effectiveness of individual versus group exercise therapy for knee and hip OA.

[A case of neuropathy mimicking Guillain-Barré syndrome after arsenic intoxication]. / Un cas de neuropathie mimant un syndrome de Guillain-Barré après une intoxication à l'arsenic.

INTRODUCTION: Chronic arsenic toxicity is a global health problem affecting millions of people. Acute arsenic poisoning is less frequent and it is most often lethal. Therefore, its consequences are not well known, more precisely its neurological consequences. OBSERVATION: We report a case of Guillain-Barré-like syndrome and encephalopathy after acute arsenical poisoning in a 50 year-old man. After 4 month follow-up, the improvement was slow and limited with persistent motor and proprioceptive deficits. DISCUSSION: The most frequent neurological complication induced by acute arsenical poisoning is a distal, symmetrical, sensory, axonal polyneuropathy. Yet the clinical course and the electrophysiological findings may also suggest a Guillain-Barré like syndrome. Moreover, the chelating is not very effective on the neurological complications. CONCLUSION: Any discrepancies in the clinical course of a Guillain-Barré syndrome shall lead to reconsider the diagnosis. The association of gastro-intestinal disorders, skin lesions, and encephalopathy and mood disorders leads to discuss intoxication with heavy metal and more precisely with arsenic. Moreover, the chelating is not very effective on the neurological complications.

[Transition in health care from youth to adulthood for disabled people]. / La continuité de prise en charge lors de la transition des soins de l'enfant à l'adulte handicapé.

Most children born with a chronic health condition or disability are expected to live more than 20 years. Health care is provided for these children in paediatric units until they are 18 years old, and the transition to the adult health care system is difficult because of poor collaboration between specialists and families who sometimes wonder if the adult specialist will be competent, although young disabled people need specialised follow-up. This report discusses U.S. and English models in the transition in health care. Coordination between paediatricians and adult services is necessary. The neuromuscular disorders clinic is cited as an example.

Evaluation of muscle oxygenation by near infrared spectroscopy in patients with facioscapulohumeral muscular dystrophy.

UNLABELLED: The purpose of the study was to determine muscle metabolism adaptation to exercise in facioscapulohumeral muscular dystrophy patients (FSHD) and to study the correlation with clinical functional status (6-min walk test). 8 FSHD patients and 15 age-matched healthy controls (Controls) performed two isokinetic constant-load knee extension exercises: (1) at 20% of their maximal extensors' peak torque (i.e., the same relative workload) and (2) at (20N⋅m) (the same absolute workload) for up to 4 min. All exercises consisted of rhythmic, voluntary, isokinetic, concentric contractions of the quadriceps femoris at 90°/s, whereas the flexion was performed passively at the same speed. Muscle oxygenation in the vastus lateralis was evaluated using near-infrared spectroscopy (NIRS). The FSHD patients displayed a lower maximal peak torque than controls (-41%, p < 0.05). During the two-exercise modalities, deoxygenated haemoglobin (HHb) and total haemoglobin volume (tHb) were lower in the FSHD patients (p < 0.05). The initial muscle deoxygenation time delay was shorter in the control group (FSHD: 15.1 ± 4.1 s vs. CONTROLS: 10.4 ± 2.1 s, p < 0.05). Mean response time and maximal peak torque were both correlated with functional impairment (walking endurance). The results suggest that FSHD patients present an impairment in their capacity to deliver or to use oxygen.

[Leather corset for the treatment of camptocormia: 31 cases]. / Appareillage par corset cuir des postures camptocormiques: à propos de 31 cas.

INTRODUCTION: Camptocormia is an acquired postural disease leading to wide-ranging emerging rachidian kyphosis. Kyphosis can be observed when the patient stands up, walks or sits. The functional impact can be significant. When the etiology is better known, personalized treatments are often deceitful. Physical therapy and orthesis may be proposed. Classical antikyphotic orthesis for the trunk are usually not well tolerated and are quickly abandoned. We proposed the use of traditional leather orthesis for such cases. MATERIALS AND METHOD: This retrospective study undertaken between April 2001 and April 2003 included 31 patients with camptocormia for whom orthesis was indicated. Eight patients benefited from use of a classical lumbar belt. All assessed the ortheses as not satisfactory. In 27 patients, leather orthesis was prescribed, and 20 used it, 19 of whom answered a questionnaire assessing functional benefits as follows: the patient is well or very well straightened, suffers less from trunk pain, suffers less or no longer when standing up without assistance during a long period, has less or no difficulty to walk, feels less or no longer tired because of the effort to stay straight without the orthesis, does not resent the alteration of social life because of the orthesis, and assesses active life as satisfactory. RESULTS: The average time to wear the othesis was 33 months. Sixty-eight percent of patients wore it at least 9 hours a day; 84% were able to put it on by themselves. The respiratory and cutaneous consequences were judged good and digestive and urinary tolerance adequate. With the orthesis, 74% of the patients responded positively to 5 of the 7 functional areas assessed. Why patients do not wear ortheses is often explained by the failure to obtain a satisfactory straight position and/or an ankle flexion, associated significant pathology, lack of motivation and difficulty in putting the orthesis on alone.

Fate of abstracts presented at the 2008 European Congress of Physical and Rehabilitation Medicine.

The subsequent full-text publication of abstracts presented at a scientific congress reflects the latter's scientific quality. The aim of this paper was to evaluate the publication rate for abstracts presented at the 2008 European Congress of Physical and Rehabilitation Medicine (ECPRM), characterize the publications and identify factors that were predictive of publication. It is a bibliography search. We used the PubMed database to search for subsequent publication of abstracts. We screened the abstracts' characteristics for features that were predictive of publication among abstracts features, such the status of the authors, the topic and the type of work. We performed univariate analyses and a logistic regression analysis. Of 779 abstracts presented at ECPRM 2008, 169 (21.2%) were subsequently published. The mean time to publication was 12±15.7 months and the mean impact factor of the publishing journals was 2.05±2.1. In a univariate analysis, university status (P<10-6), geographic origin (P=10-3), oral presentation (P<10-6), and original research (P<10-6) (and particularly multicentre trials [P<0.01] and randomized controlled trials [P=10-3]) were predictive of publication. In a logistic regression analysis, oral presentation (odds ratio [OR]=0.37) and university status (OR=0.36) were significant, independent predictors of publication. ECPRM 2008 publication rate and impact factor were relatively low, when compared with most other national and international conferences in this field. University status, the type of abstract and oral presentation were predictive of subsequent publication.

Collection of normative data for spatial and temporal gait parameters in a sample of French children aged between 6 and 12.

OBJECTIVE: Normative data on gait is essential for clinical practice - especially in children whose gait pattern changes over time. Sets of normative gait data in healthy children vary significantly from one country to another. We decided to generate a specific reference database of gait parameters for French children. METHOD: Three hundred and eighty-two children (228 boys and 154 girls, aged between 6 and 12) were asked to walk as naturally as possible and at a self-selected speed on a GAITRite track. Velocity, step count, cadence, step time, step length, cycle time, stride length, base width, swing time, stance time, single support time and double support time were recorded. Parameters were analyzed by age group, height group and BMI. RESULTS: Velocity, step and stride length increased regularly with advancing age and height. Cadence decreased with height. All temporal parameters (except for double support) differed significantly (P<0.05) when comparing the 6-year-old group or the 7-year-old group with the 9-year-old group and older groups. A small number of temporal parameters (cadence, step time, cycle time and stance time) differed significantly when comparing 7-year-olds and 8-year-olds. Temporal parameters appeared rise in proportion height from 110 cm to 130 cm and then reached a plateau. Overweight was associated with a longer stance time and more double support. CONCLUSION: The gait pattern in French children aged between 6 and 12 differs from those recorded elsewhere in the world; although gait parameters appear to change in much the same way with age worldwide, our values (even when normalized) are different. Our local database should be of value in French studies of childhood gait disorders. Given that gait patterns do not appear to mature by the age of 12, it would be valuable to study gait patterns in a population of teenagers.

Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2).

In a 12-year old girl suffering from autosomal recessive axonal Charcot-Marie-Tooth (CMT) neuropathy, pes cavovarus was treated with botulinum toxin injection in the tibialis posterior. The patient underwent a clinical evaluation, video analysis of spatiotemporal gait parameters and dynamic foot plantar pressure assessment before treatment and then two weeks, three months and six months thereafter. The video gait analysis revealed a decrease in varus during the swing phase of gait. The dynamic foot plantar pressure decreased by 50% in the excessive pressure at the side of the foot six months after the injection (maximal pressure=42.6N/cm2 before treatment and 18.9 N/cm2 after 6 month). Botulinum toxin injection appears to be an efficacious means of correcting pes cavovarus in CMT disease. A larger-scale clinical trial is now required to evaluate the putative longer-term preventive effect of this treatment on the pes cavus deformity.

An unusual cause of foot clonus: spasticity of fibularis longus muscle.

The functional consequences of spasticity can be corrected by local, pharmacological or surgical treatments once the spastic muscle has been identified. However, this diagnosis can be tricky when the muscle in question is rarely involved in spasticity or when its mechanical action is unusual or poorly characterized. Here, we present the case of a man presenting with left hemiplegia after an ischaemic stroke. His gait was perturbed by foot clonus in the sagittal plan, which persisted after selective neurotomy of the gastrocnemius and soleus but disappeared after neurotomy of the peroneus longus. Clonus triggered by pushing up under the whole of the forefoot in the direction of dorsiflexion may not be related to spasticity of the triceps surae. We recommend screening for foot clonus by first pushing up on the sole of the foot under all five metatarsals. In a second step, selectively pushing up under the first metatarsal joint enables the physician to evidence spasticity of the peroneus longus.

Development and validation of a motor function classification in patients with neuromuscular disease: the NM-score.

OBJECTIVE: To develop a classification for neuromuscular disease patients in each of the three motor function domains (D1: standing and transfers; D2: axial and proximal function; D3: distal function). MATERIALS AND METHODS: A draft classification was developed by a study group and then improved by qualitative validation studies (according to the Delphi method) and quantitative validation studies (content validity, criterion validity and inter-rater reliability). A total of 448 patients with genetic neuromuscular diseases participated in the studies. RESULTS: On average, it took 6.3minutes to rate a patient. The inter-rater agreement was good when the classification was based on patient observation or an interview with the patient (Cohen's kappa=0.770, 0.690 and 0.642 for NM-Score D1, D2 and D3 domains, respectively). Stronger correlations (according to Spearman's coefficient) with the respective "gold standard" classifications were found for NM-Score D1 (0.86 vs. the Vignos Scale and -0.88 vs. the Motor Function Measure [MFM]-D1) and NM-Score D2 (-0.7 vs. the Brooke Scale and 0.64 vs. MFM D2) than for NM-Score D3 (0.49 vs. the Brooke scale and -0.49 vs. MFM D3). DISCUSSION/CONCLUSIONS: The NM-Score is a reliable, reproducible outcome measure with value in clinical practice and in clinical research for the description of patients and the constitution of uniform patient groups (in terms of motor function).

Evaluation of muscle oxygenation by near-infrared spectroscopy in patients with Becker muscular dystrophy.

Several authors have reported alterations in vasodilation during effort in patients with dystrophinopathies, in which a lack of neuronal NO synthase is thought to lead to functional muscle ischemia. In order to determine changes in muscle oxygenation during effort in patients with Becker muscular dystrophy (BMD) and assess the parameters' links with disease severity and functional status, 10 BMD patients and 10 age-matched controls performed isokinetic, constant-load knee extension exercises at (i) 20% of their extensors' peak torque (i.e. the same relative load) and (ii) the same absolute load (20 Nm). Muscle oxygenation was evaluated noninvasively using near-infrared spectroscopy (NIRS), with the time course of deoxygenation as the main criterion. As expected, BMD patients displayed a lower peak torque than controls (-62%). During both types of exercise, initial muscle deoxygenation was faster (by 27-41%) in BMD patients than in controls. Greater disease severity (according to the Motor Function Measure) and functional impairment (walking endurance) were associated with a faster second deoxygenation phase (τ). The validity and relevance of muscle deoxygenation parameters and the alteration of vasodilatation by nNOS deficiency in dystrophinopathies should be assessed by further studies.