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
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.
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.
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.
F., Gayathri, N. and Nalini, A. (2011) 'Congenital myopathies: Clinical and
immunohistochemical study', Neurology
India, 59(6), 879-883.
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.