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.

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.

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.

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.

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.

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.

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).

[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.

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.

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.

Impact of a rehabilitation program on muscular strength and endurance in peripheral arterial occlusive disease patients.

UNLABELLED: Rehabilitation care and physical exercise are known to constitute an effective treatment for chronic peripheral arterial occlusive disease (PAOD) at the intermittent claudication (IC) stage. Improvements in functional capacities and quality of life have been reported in the literature. We decided to assess the effects of hospital-based exercise training on muscle strength and endurance for the ankle plantar and dorsal flexors in this pathology. PATIENTS AND METHODS: This prospective study included 31 subjects with chronic peripheral arterial occlusive disease (PAOD) and IC who followed a 4-week rehabilitation program featuring walking sessions, selective muscle strengthening, general physical exercise and therapeutic patient education. An isokinetic assessment of ankle plantar and dorsal flexors strength was conducted on the first and last days of the program. We also studied the concentric contractions at the angular velocity of 30°/s and 120°/s for muscle strength and at 180°/s for muscle fatigue. We also measured the walking distance for each patient. RESULTS: Walking distance improved by 246%. At baseline, the isokinetic assessment revealed severe muscle weakness (mainly of the plantar flexors). The only isokinetic parameter that improved during the rehabilitation program was the peak torque for plantar flexors at 120°/s. CONCLUSION: All patients presented with severe weakness and fatigability of the ankle plantar and dorsal flexors. Our program dramatically improved walking distance but not muscle strength and endurance.

Post-polio syndrome and rehabilitation.

Post-polio syndrome (PPS) is the commonly affected term to describe the symptoms that may develop many years after acute paralytic poliomyelitis. The etiology of PPS is still unclear. An overuse of enlarged motor units is suspected causing denervation again due to distal degeneration of axons. Metabolic and functional changes has been described in muscle fibers of partially denervated muscles. Nevertheless, submaximal aerobic training and low intensity muscular strengthening have shown positive effects on muscular strength and cardiorespiratory system in patients affected by PPS. Aquatic therapy has a positive impact on pain and muscle function. In patients with severe fatigue, it is recommended to adapt the daily exercise routine to their specific case.

Post-polio syndrome: Pathophysiological hypotheses, diagnosis criteria, drug therapy.

Post-polio syndrome (PPS) refers to a clinical disorder affecting polio survivors with sequelae years after the initial polio attack. These patients report new musculoskeletal symptoms, loss of muscular strength or endurance. PPS patients are tired, in pain and experience new and unusual muscular deficits, on healthy muscles as well as deficient muscles initially affected by the Poliovirus. Once a clinical diagnosis is established, the therapeutic options can be discussed. Some pathophysiological mechanisms have been validated by research studies on PPS (inflammatory process in cerebrospinal fluid [CSF] and cytokines of the immune system). Several studies have been conducted to validate medications (pyridostigmine, immunoglobulin, coenzyme Q10) or physical exercises protocols. This article focuses on the relevance and efficacy that can be expected from these therapeutics. Very few studies reported some improvements. Medications combined to individual and supervised exercise training programs are promising therapeutic strategies for PPS patients care management.

Aging and sequelae of poliomyelitis.

OBJECTIVE: We estimate that there are about 50,000 persons who survived poliomyelitis in their childhood in France (mean age estimated between 50 and 65 years). After a few decades of stability, 30 to 65% of individuals who had been infected and recovered from polio begin to experience new signs and symptoms. METHOD: Review of the literature on Pubmed with the following keywords "Poliomyelitis" and "Post-Polio Syndrome (PPS)". RESULTS: These new signs and symptoms are characterized by muscular atrophy (decreased muscle mass), muscle weakness and fatigue, muscle and/or joint pain. All these symptoms lead to significant changes in mobility with falls and inability to carry on with daily life activities. There are several intricate causes. The normal aging process and weight gain are regularly blamed. Respiratory disorders and sleep disorders must be looked for: respiratory insufficiency, sleep-related breathing disorders such as sleep apnea, restless legs syndrome. Orthopedics complications are quite common: soft-tissue pathologies of the upper limbs, degenerative pathologies of the large joints or spinal cord, fall-related fractures. Finally, the onset of an authentic PPS is possible. CONCLUSION: The therapeutic care of this late functional deterioration requires regular monitoring check-ups in order to implement preventive measures and appropriate treatment. This therapeutic care must be multidisciplinary as physical rehabilitation; orthotics and technical aids are all essential.

Efficacy and tolerance of gastrostomy feeding in Duchenne muscular dystrophy.

Undernutrition occurs often in individuals with Duchenne muscular dystrophy (DMD). Between 1997 and 2007, a gastrostomy was placed in 25 patients with DMD (median: 23 years old; range, 11-38 years) for weight loss (n=22) and/or swallowing disorders (n=13). We evaluated nutritional status using the weight-for-age (W/A) ratio, comparing the values to the reference curve for DMD patients. During the first 9 months, nutritional status improved: the W/A ratio increased and reached a plateau. The W/A ratio was 69% (range, 45-128%) at the start and increased to 87% (range, 49-164%) at the maximal follow-up of 22 months (P<0.001). However, the W/A ratio did not reach the median value for age. Complications occurred in 21 patients (84%), but caused no mortality. Our data suggest that gastrostomy is well tolerated by, and effective for improving the nutritional status of, individuals with DMD.