Walking ANalysis Interest in Persons wiTh facioscapulohumEral Muscular Dystrophies

Facioscapulohumeral muscular dystrophy (FSH) is one of the most common genetic myopathies in adults. It is characterised by progressive asymmetric muscular atrophy affecting the skeletal muscles of the face, upper limbs and then lower limbs, causing problems with walking, which is one of the most frequent complaints of these patients. In fact, 20% of people with FSH require a wheelchair from the age of 60. To date, scientific research into FSH has focused mainly on the molecular level, enabling potential therapeutic targets to be identified. Trials of gene therapies and other drug therapies are gradually emerging, with the aim of having a positive impact on these people\'s functional abilities, particularly walking difficulties. However, few studies have looked at the functional impact of FSH on these people, and in particular at the specific analysis of their walking ability In France, the functional assessment of FSH is carried out using a clinical reference scale called the Motor Function Measurement (MFM), the D1 sub-score of which studies items relating to standing and transfers. However, this scale does not objectively and specifically study gait disorders, and its application requires a great deal of time (at least 30 minutes) and specific training leading to certification, limiting its use in practice almost exclusively to centres of expertise and reference for neuromuscular diseases. The NeuroMuscular Score-D1 (NM-score D1), linked to the MFM D1 sub-score, is the…

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Nawale HADOUIRI  ·  0380669073  ·  nawale.hadouiri@chu-dijon.fr

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