P.053 A clinical mystery finally revealed

Background: We report 2 brothers sharing FHL1 identified mutation. They presented in childhood with overlapping clinical features characterized by early onset stiffness and increased muscle definition with cardiac involvement. After 30 years of neurological followup, the diagnosis is finally revealed. Methods: At early ages, both had increased definition of upper trunk musculature. The older brother had hypophonic voice with raspy character, which is to our knowledge, not reported with this mutation before. He required a pacemaker for arrhythmias, while the younger developed congestive heart failure. Results: Their initial investigations failed to unveil a diagnosis, including a negative next generation sequencing (NGS) panel for AR LGMD. An expanded NGS sent on the older brother revealed he is hemizygous for 1770 bp deletion within FHL 1 gene, this deletion includes exon 7to 8, and confirmed on the other. Conclusions: First reported in 2008, FHL1 mutations result in phenotypically distinct neuromuscular disorders: X-linked myopathy with Postural Muscle Atrophy and generalized hypertrophy, X-linked dominant scapuloperoneal Myopathy, and Reducing Body Myopathy. Subsequently other phenotypes have been reported including Emery-Dreifuss muscular dystrophy and hypertrophic cardiomyopathy. Our patients present with a phenotype that had been reported with FHL1 mutation, highlighting the possible recognition of this presentation in aiding a diagnostic approach.

Evidence for constancy in the modularity of trunk muscle activity preceding reaching: Implications for the role of preparatory postural activity.

Postural muscle activity precedes voluntary movements of the upper limbs. The traditional view of this activity is that it anticipates perturbations to balance caused by the movement of a limb. However, findings from reach-based paradigms have shown that postural adjustments can initiate center of mass displacement for mobility, rather than minimize its displacement for stability. Within this context, altering reaching distance beyond the base of support would place increasing constraints on equilibrium during stance. If the underlying composition of anticipatory postural activity is linked to stability, coordination between muscles (i.e., motor modules) may evolve differently as equilibrium constraints increase. We analyzed the composition of motor modules in functional trunk muscles as participants performed multi-directional reaching movements to targets within and beyond arm's length. Bilateral trunk and reaching arm muscle activity were recorded. Despite different trunk requirements necessary for successful movement, and the changing biomechanical (i.e. postural) constraints that accompany alterations in reach distance, Non-negative Matrix Factorization identified functional motor modules derived from preparatory trunk muscle activity that shared common features. Relative similarity in modular weightings (i.e., composition) and spatial activation profiles that reflect movement goals across tasks necessitating differing levels of trunk involvement provides evidence that preparatory postural adjustments are linked to the same task priorities (i.e. movement generation rather than stability).

Evaluation and modeling of human posture and balance in response to sensory inputs in a virtual environment

Balance control, spatial orientation and upright posture require an accurate integration of sensory inputs. In order to understand the integration in terms of motor learning and balance improvement, experiments were conducted in a virtual environment. The objectives of the current work were to: 1) examine the postural muscle responses, head movements, and game performance in young healthy subjects when they were exposed to unpredictable situations in the virtual environment 2) examine the extent of learning transfer that occurred in the virtual environment to the real world by means of pre and post posture tests 3) propose and validate the theoretical model that simulates experimental results. Results revealed that game performance increased during training in the virtual environment. The postural test results, electromyogram and head movement data have implications in using the virtual environment in balance and vestibular rehabilitation, for alleviating simulator sickness symptoms, and enhancing spatial knowledge and memory. The model simulates the experimental results very closely and sheds light on the activation of muscles under specific situations encountred in the environment. Overall, the experimental results supported our hypothesis.

Evaluation and modeling of human posture and balance in response to sensory inputs in a virtual environment

Balance control, spatial orientation and upright posture require an accurate integration of sensory inputs. In order to understand the integration in terms of motor learning and balance improvement, experiments were conducted in a virtual environment. The objectives of the current work were to: 1) examine the postural muscle responses, head movements, and game performance in young healthy subjects when they were exposed to unpredictable situations in the virtual environment 2) examine the extent of learning transfer that occurred in the virtual environment to the real world by means of pre and post posture tests 3) propose and validate the theoretical model that simulates experimental results. Results revealed that game performance increased during training in the virtual environment. The postural test results, electromyogram and head movement data have implications in using the virtual environment in balance and vestibular rehabilitation, for alleviating simulator sickness symptoms, and enhancing spatial knowledge and memory. The model simulates the experimental results very closely and sheds light on the activation of muscles under specific situations encountred in the environment. Overall, the experimental results supported our hypothesis.

Neuromuscular, Perceptual, and Temporal Determinants of Movement Patterns in Wheelchair Fencing: Preliminary Study

The objective of the present study was to determine the structure of the movement pattern performed during a wheelchair fencing lunge that is executed in response to visual and sensory stimuli. In addition, a comparison was made between fencers in the categories A and B of disability. In addition, the analysis involved the correlation between the duration of the sensorimotor response and the value of the bioelectric signal recorded in selected muscles. Seven Paralympic team athletes specializing in wheelchair fencing (3 in category A and 4 in category B) participated in the research. The fencers perform at international level competitions and are multiple medalists of the Paralympic Games. In the study, a wireless system for sEMG and accelerometer signal measurement was employed to test the intervals between the initiation of the lunge attack and its termination defined by the touch of the weapon on the coach’s torso. The electrodes were placed on 9 key muscles responsible for the effectiveness of the executed attack: DEL, TRI, BC, ECR FCR, LD, and EAO. The significant intergroup difference in the muscle activation was found to be 0.333 s for category A fencers and 0.522 s for category A fencers at p=0.039 applies to the latissimus dorsi (LD LT) muscle, which demonstrates its significance as a postural muscle in the structure of the examined movement pattern. In terms of the values of EMG, a tendency for higher MVC (%) values in most muscles for category A competitors was recorded. The latissimus dorsi (DL RT) muscle with an intergroup difference of MVC-114.63 for cat. A and 67.50 for cat. B at p=0.039 turned out to play a significant role. The results prove the role of postural muscles: external abdominal oblique and latissimus dorsi on the effectiveness of the attacks executed in wheelchair fencing.

The role of manual therapy in complex medical rehabilitation

In recent years, manual therapy has been increasingly used. This was facilitated by the scientific justification of the method, wellestablished training of specialists, good results of manual diagnostics and therapy of patients. Manual medicine is a system of diagnostic and therapeutic manual techniques aimed at identifying and treating disorders of the musculoskeletal system, manifested in the form of functional joint blockages, hypermobility and regional postural muscle imbalance. In addition to nosological diagnosis, manual examination data are of great importance for successful treatment. Manual diagnostics is a method aimed at detecting disorders in the spine, muscles and joints, as well as ligaments of the human body. The main task of diagnostics is to establish a differential diagnosis between diseases of the spine and joints and other nosological forms. Timely manual diagnostics with the use of manual therapy technologies helps to increase the effectiveness of complex treatment and helps to avoid complications and disability at an early age.