S.P.19 Using the Motor Function Measure (MFM) in the assessment of children with Charcot–Marie–Tooth (CMT)1A; strengths and limitations

Abstract

Abstract Developing and testing assessment modalities for children with varying neuromuscular disorders is a challenge that we are all facing in an attempt to ensure the most effective tools for clinical and research use. The problems faced by children with CMT tend to differ quite widely from children with other neuromuscular disorders due to the preponderance of peripheral symptoms. At Great Ormond Street Hospital we currently have a large cohort of 50 children with CMT1A. We have for several years attempted to find assessments that cover the wide range of problems encountered, in terms of strength, foot deformity, hand function and difficulty with activities of daily living. To this end, we assessed 25 children with a confirmed diagnosis of CMT1a with an age range of 3 years 4 months to 16 years 2 months, using the full MFM 32. Other tests included timed 10 m, grip strength measured by myometry, MRC% and a questionnaire on activities of daily living adapted from the Paediatric Evaluation of Disability Inventory (PEDI). The total MFM percentage correlated well with the other parameters. The MFM is split into three domains, D1 standing and transfers, D2 Axial and proximal motor function, D3 distal motor function. It was found that all the children scored 100% on domain D2, Axial and proximal function which would be expected in a peripheral neuropathy. The children varied most notably in Domain D3, distal motor function, not necessarily due to age or directly related to grip strength. Domain D1 correlated with measurement of muscle power. It was therefore felt that the MFM could be equally efficacious in functional testing without including the Domain D2 and the total percentage calculated accordingly.