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Conference Poster
Waksh A, Wrenn S.
2013
November
Developmental milestones and biomechanical observations of Congenital Myopathy: A paediatric case study
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BackgroundCongenital Myopathy (CM) refers to a group of neuromuscular disorders emerging at birth or infancy. Presentation includes generalised muscle weakness, hypotonia and delayed developmental milestones. Myopathies are differentiated diagnostically on the basis of their morphologic characteristics of muscle cells (Thaha et al. 2011). Incidence and exact aetiology of CM is unknown and given their low incidence, CM’s are not well-known to most care providers.  Further research therefore is needed to optimise orthopaedic and rehabilitation management of children with CM’s (Wang et al. 2012).  This case study provides an invaluable insight into the biomechanical and postural manifestations of an undiagnosed CM and the importance of multidisciplinary team (MDT) care and the role of the Podiatrist in the management of the mobility of the child.  Case Presentation This case study highlights biomechanical and postural manifestations of a 20 month old male paediatric patient with an undiagnosed form of CM. It highlights the requirement for a multi faceted team management approach with the involvement of the Early Intervention Team (EIT). Investigations and results A full musculoskeletal assessment was completed. The subject displayed various delayed development milestones including pulmonary, gastrointestinal, and orthopaedic and oral/vocal. A meeting with the Occupational therapist and Physiotherapy was arranged to discuss the subjects’ recent progress and their clinical findings and treatment aims were noted. An unstructured informal Interview was conducted with the subjects’ mother to discuss the psychosocial elements attached to her sons delayed developmental milestones.   Treatment Podiatric evaluation of this patient incorporated musculoskeletal assessments to investigate the presenting complaints and inform the long term management of this child’s complex condition. This case study illustrates the holistic management of the 20 month paediatric patient and highlights necessary treatment interventions in the areas of ambulation and mobility, posture and exercise. Interventions included exercise to maximise bone strength, manage muscle contractures, and improve posture and facilitate upright standing. Liaison with an orthopaedic consultation aimed to investigate and manage the noted scoliosis of the spine. Conclusions The EIT is working collaboratively with the MDT to improve the well-being of the child on a regular basis. The MDT management involves Speech and Language Therapists, Public Health Nurse, Occupational Therapists, Paediatric Neuromuscular Specialist and a Paediatric Neurologist. Although most CM’s are usually non-progressive it is difficult to evaluate a prognosis due to the rarity of the disease. Increased awareness of this condition may aid early diagnosis which is key to the success of the EIT. References Thaha, F., Gayathri, N. and Nalini, A. (2011) 'Congenital myopathies: Clinical and immunohistochemical study', Neurology India, 59(6), 879-883. Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A. M., Estournet-     Mathiaud, B., Fitzgerald, D., Florence, J. M., Gee, R. and Gurgel-Giannetti, J. (2012) 'Consensus Statement on Standard of Care for Congenital Myopathies', Journal of Child Neurology, 27(3), 363-382.
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