Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

The original version of this article [1] unfortunately included an error to an author's name. Author Jordi Díaz-Manera was erroneously presented as Jorge Alberto Diaz Manera. The correct author name has been included in the author list of this Correction article.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

BACKGROUND: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania). RESULTS: The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact. CONCLUSIONS: The community should consider how to maximise this collective resource in future therapeutic programmes.

Epidemiological situation of Lyme borreliosis in Belgium, 2003 to 2012.

BACKGROUND: Some studies show that the incidence of Lyme borreliosis is increasing in different European countries. In order to evaluate if this is also the case in Belgium, different data sources were consulted to describe the epidemiology of Lyme borreliosis in the country during the last decade. METHODS: Data from two databases were analyzed for the time period 2003-2010 and 2003-2012 for respectively: the registration of minimal clinical data from Belgian hospitals (principal and secondary diagnosis), and a sentinel laboratory network reporting positive laboratory results. RESULTS: The number of hospitalized cases per year remained stable between 2003 and 2010, ranging from 970 (in 2008) to 1453 (in 2006), with a median of 1132.5 cases per year. Between 2003 and 2012, yearly fluctuations in the number of positive tests were reported by the sentinel laboratory network (with a minimum of 996 positive tests in 2007 and a maximum of 1651 positive tests in 2005), but there is no increasing trend over the study period (median = 1200.5 positive tests per year). The highest incidence rates of hospitalization and the highest reported incidence of positive laboratory results are registered in the provinces of Luxemburg, Limburg, Flemish Brabant and Antwerp, with a typical seasonal pattern (peak in September). The age groups affected most are those from 5 to 14 years and 45 to 69. CONCLUSION: Based on hospital records and laboratory results, no increasing trend in Lyme disease was observed over the 2003-2012 period in Belgium. These results are in line with the stable incidence of erythema migrans reported by a sentinel network of general practitionners between 2003 and 2009. Multi-source surveillance of vector-borne diseases should be further implemented.

Capturing neuroplastic changes after bimanual intensive rehabilitation in children with unilateral spastic cerebral palsy: A combined DTI, TMS and fMRI pilot study.

Intensive rehabilitation interventions have been shown to be efficacious in improving upper extremity function in children with unilateral spastic cerebral palsy (USCP). These interventions are based on motor learning principles and engage children in skillful movements. Improvements in upper extremity function are believed to be associated with neuroplastic changes. However, these neuroplastic changes have not been well-described in children with cerebral palsy, likely due to challenges in defining and implementing the optimal tools and tests in children. Here we documented the implementation of three different neurological assessments (diffusion tensor imaging-DTI, transcranial magnetic stimulation-TMS and functional magnetic resonance imaging-fMRI) before and after a bimanual intensive treatment (HABIT-ILE) in two children with USCP presenting differential corticospinal developmental reorganization (ipsilateral and contralateral). The aim of the study was to capture neurophysiological changes and to document the complementary relationship between these measures, the potential measurable changes and the feasibility of applying these techniques in children with USCP. Independent of cortical reorganization, both children showed increases in activation and size of the motor areas controlling the affected hand, quantified with different techniques. In addition, fMRI provided additional unexpected changes in the reward circuit while using the affected hand.

Comparison between tibial nerve block with anaesthetics and neurotomy in hemiplegic adults with spastic equinovarus foot.

OBJECTIVE: The aim of the study was to compare the effect of diagnostic motor nerve block with anaesthetics and of selective tibial neurotomy in the treatment of spastic equinovarus foot in hemiplegic adults. METHODS: In this prospective observational study, 30 hemiplegic adults with spastic equinovarus foot benefited from a diagnostic nerve block with anaesthetics followed by a selective tibial neurotomy performed at the level of the same motor nerve branches of the tibial nerve. Spasticity (Ashworth scale), muscle strength (Medical Research Council scale), passive ankle dorsiflexion (ROM), gait parameters (10 meters walking test) and gait kinematics (video assessment) were assessed before and after the nerve block and two months and two years after selective tibial neurotomy. RESULTS: The decrease in spasticity and the improvement in gait kinematics were similar after the diagnostic nerve block and two months and two years after neurotomy. The diagnostic nerve block did not revealed the slight increase in gait speed and in tibialis anterior muscle strength that was observed two years after neurotomy. CONCLUSION: This study suggests that diagnostic nerve block with anaesthetics and selective neurotomy equally reduce spasticity and improve gait in case of spastic equinovarus foot in hemiplegic adults. Diagnostic nerve block can be used as a valuable screening tool before neurotomy.

Kinematic covariation in pediatric, adult and elderly subjects: is gait control influenced by age?

BACKGROUND: In human walking, kinematics of lower limb segments covary. Our objective was to assess the impact of age at different speeds (slow, medium and fast) on kinematic segmental covariation in normal subjects. METHODS: Thirty subjects ranged into 6 age groups ("5 years", "10 years", "15 years", "20 years" and "70 years") were included. We performed a gait analysis on a treadmill at 3 predetermined speeds: 1 (slow), 3 (medium) and 5 (fast) km h(-1), except for the 5 years group who was unable to walk at 5 km h(-1). Kinematic segmental covariation was computed and represented by a 3D-loop, described by a principal component analysis (Borghese's methodology). We studied the percentage of variance of each component of the principal component analysis, knowing that the percentage of variance of the first and the second components reflected the shape of the loop, and that the percentage of variance of the third component was an index of its planarity. The effect of age was tested using a one-way analysis of variance. FINDINGS: When comparing the age groups at the same speed, we found a significant difference in the percentage of variance of the first and the second components between the 5 and the 10 years at 3 km h(-1). We also noticed a difference in the percentage of variance of the third component at 5 km h(-1) between the 10 years and the 15 and 20 years groups. INTERPRETATION: We observed that kinematic covariation remains stable throughout adulthood between 15 and 70 years old at slow, medium and fast speed. In children, a mature percentage of variance of the first and the second components is acquired from 10 years old and a mature percentage of variance of the third component from 15 years old.

Reliability of lower limb kinematics, mechanics and energetics during gait in patients after stroke.

OBJECTIVE: To assess the reliability of kinematic, mechanical and energetic gait variables at short (1 day) and medium (1 month) intervals in adult patients after stroke. DESIGN: Prospective study. SUBJECTS: Ten patients with chronic post-stroke (mean age 53.5 years; age range 25-80 years). METHODS: Three-dimensional gait analysis was performed 3 times in these subjects: at baseline (T0), after 1 day (T1) and after 1 month (T2). The reliability of the gait analysis was tested by comparing gait variables measured at T1 and T0 (1 day interval), at T2 and T0 (1 month interval). The inter-session reliability of kinematic, mechanical and energetic variables was calculated by intra-class correlation coefficient (ICC). RESULTS: The reliability of kinematic variables ranged from excellent to moderate (ICC >or= 0.51), except for the ankle position at heel strike (ICC = 0.44). The reliability of mechanical and energetic variables ranged from excellent to good (ICC >or= 0.71). The most reliable variable was external mechanical work (ICC = 0.96). The kinematic, mechanical and energetic variables did not change significantly between T0, T1 and T2 (repeated-measures analysis of variance). CONCLUSION: Kinematic, mechanical and energetic gait variables present good reliability when measured at 1 day and 1 month intervals in adult patients after stroke.

Effect of upper limb botulinum toxin injections on impairment, activity, participation, and quality of life among stroke patients.

BACKGROUND AND PURPOSE: The purpose of this study was to study the effect of Botulinum toxin type A (BoNT-A) injections in spastic upper limb muscles on impairment, activity, participation and quality of life in chronic stroke patients. METHODS: BoNT-A (Dysport) was injected into several upper limb spastic muscles in a group of 20 patients. Neurological impairment (muscle tone and strength, dexterity, SIAS), activity (ABILHAND), participation (SATIS-Stroke), and quality of life (SF36) were assessed before and 2 months after the injections. RESULTS: BoNT-A injections improved muscle tone, but had no impact on dexterity, manual ability, social participation, and quality of life. CONCLUSIONS: In this study, BoNT-A injections in spastic upper limbs significantly reduced neurological impairments, but had no functional impact.

The effect of botulinum toxin injections on gait control in spastic stroke patients presenting with a stiff-knee gait.

INTRODUCTION: Botulinum toxin type A (BoNT-A) injections are known to improve walking impairments and activity in spastic hemiparetic stroke patients presenting with a stiff-knee gait [Caty GD, Detrembleur C, Bleyenheuft C, Deltombe T, Lejeune TM. Effect of simultaneous botulinum toxin injections into several muscles on impairment, activity, participation, and quality of life among stroke patients presenting with a stiff knee gait. Stroke 2008;39(October (10)):2803-8]. The aim of the present study was to understand how the improvement of mechanical variables during gait is controlled by the central nervous system after BoNT-A injections. Therefore, we used Kinematic Segmental Coordination (KSC), i.e. the kinematic covariation law of elevation angles between lower limb segments, to assess their effect on gait control. As far as we know, this has never been studied before. METHODS: Twenty chronic hemiparetic stroke patients presenting with a stiff-knee gait performed an instrumented gait analysis at the same walking speed before and 2 months after BoNT-A injection in several spastic muscles. We used the kinematic recordings previously obtained by Caty et al. [Caty GD, Detrembleur C, Bleyenheuft C, Deltombe T, Lejeune TM. Effect of simultaneous botulinum toxin injections into several muscles on impairment, activity, participation, and quality of life among stroke patients presenting with a stiff knee gait. Stroke 2008;39(October (10)):2803-8] and computed KSC following Borghese's methodology. The treatment effect was tested using a repeated measures ANOVA. RESULTS: BoNT-A injections allowed a statistically significant improvement in KSC of both lower limbs (p=0.004). Moreover, the unaffected side KSC reached normal values after BoNT-A injections. CONCLUSION AND DISCUSSION: BoNT-A allowed an improvement in KSC of the affected lower limb and a normalization of KSC of the unaffected limb. This improvement could either be due to a mechanical effect or a central effect of BoNT-A via the spinal central pattern generators (CPGs).

Effect of simultaneous botulinum toxin injections into several muscles on impairment, activity, participation, and quality of life among stroke patients presenting with a stiff knee gait.

BACKGROUND AND PURPOSE: Walking is an essential activity for daily life and social participation, and it is frequently limited after stroke. A lack of knee flexion during the swing phase (stiff knee) is one of the impairments that restrict walking ability among patients with hemiparetic spasticity. Our purpose was to study the effect of Botulinum toxin type A (BoNT A) injections in several spastic muscles on the impairment, activity, participation, and quality of life of patients with chronic stroke presenting with a stiff knee gait. METHODS: Twenty chronic hemiparetic poststroke patients with stiff knee gait and ability to walk on a treadmill were recruited. BoNT A was injected into several spastic muscles: the rectus femoris (200 U), semitendinosus (100 U) and triceps surae (200 U). Patients' neurological impairments (Ashworth scale, Duncan-Ely test, Stroke Impairment Assessment Set, and instrumented gait analysis), activity (ABILOCO and 10-m walking test), and participation (SATISPART-Stroke and 36-item Short-Form Health Survey) were assessed before and 2 months after the injection. RESULTS: BoNT A injection reduced the impairments. It improved Stroke Impairment Assessment Set (56.5 [48-63] to 56.5 [52.5 to 63]; P<0.001), reduced rectus femoris muscle tone (2 [1 to 2.5] to 0 [0 to 1]; P<0.001), and reduced semitendinosus muscle tone (1 [1 to 1.5] to 1 [0 to 1]; P<0.001). Gait analysis demonstrated increased knee flexion during the swing phase (22+/-19 degrees to 27+/-16 degrees ; P=0.03), decreased external mechanical work (0.66+/-0.38 to 0.59+/-0.25 J kg(-1) m(-1); P=0.04), and demonstrated a lower energy cost (5.8+/-1.9 to 4.9+/-1.9 J kg(-1) m(-1); P=0.03). The patients' locomotion ability was improved (2.2+/-1.9 to 3.2+/-2.1 logits; P=0.03). The participation and quality of life remained unchanged. CONCLUSIONS: BoNT A injections in several muscles improved the stiff knee gait and the locomotion ability in adult stroke patients.

Quantitative assessment of anaesthetic nerve block and neurotomy in spastic equinus foot: a review of two cases.

OBJECTIVE: To quantitatively evaluate the effect of motor nerve branch block and neurotomy of the soleus nerve on triceps surae spasticity, reviewing 2 cases. METHODS: Beside clinical assessment, we carried out a quantitative measurement of the stiffness of the ankle flexor muscles. The path length of the phase diagram between elastic and viscous stiffness quantifies the reflex response to movement and reflects the importance of the spasticity. The assessments were carried out before and 30 min after motor nerve branch block of the upper soleus nerve and more than 7 months after neurotomy. RESULTS: Both patients presented with pronounced ankle plantar flexor spasticity: their path lengths were more than 6 times greater than normal values at baseline (#1: 354 N m rad(-1); #2: 409 N m rad(-1)). Motor nerve branch block and neurotomy allowed a near-normalization of elastic and viscous stiffness of ankle plantar flexor muscles in the 2 patients. Their path length was almost similarly improved by motor nerve branch block (#1: 127 N m rad(-1); #2: 231 N m rad(-1)) and neurotomy (#1: 60 N m rad(-1); #2: 162 N m rad(-1)). CONCLUSION: These case reports highlight the fundamental role of the soleus muscle in triceps surae spasticity in our patients, the predictivity of motor nerve branch block in the preoperative assessment, and the effectiveness of soleus neurotomy in spastic equinus foot.