VP427 The Swiss cohort of LAMA2-related muscular dystrophy patients.

Enzmann, C.; Steiner, L.; Baumann, D.; Lötscher, N.; Jacquier, D.; Stettner, G.; Henzi, B.; Ripellino, P.; Fluss, J.; Klein, A. (October 2023). VP427 The Swiss cohort of LAMA2-related muscular dystrophy patients. Neuromuscular disorders, 33, S159. Elsevier 10.1016/j.nmd.2023.07.368

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LAMA2-related muscular dystrophy is an autosomal-recessive disorder and one of the most common forms in the group of congenital muscular dystrophies. There is a spectrum of severity ranging from a severe, early onset, congenital phenotype to a limb-girdle like pattern of ambulatory patients. Due to promising preclinical results of new therapeutic options, there is an increasing effort of several research groups worldwide to better define epidemiology and natural history of this disease. In Switzerland, we started to include pediatric patients in our national neuromuscular registry (Swiss-Reg-NMD) in 2018. Baseline data and 6-12 monthly follow-up data are collected by the treating physician in the local neuromuscular center. Baseline data include information about diagnostic investigations (genetics, laboratory results, MRI, clinical phenotype), motor function, epilepsy, lung function, cardiological investigations and motor function scores. We were able to include all diagnosed pediatric patients of the Swiss neuromuscular centers and one adult patient with a baseline data set. We present data of the baseline data set from 18 patients. 15/18 patients belong to the group of the severe congenital form, 3/18 patients show a limb-girdle muscular dystrophy pattern. Age ranges from 0 months to 31 years. Brain MRI data are available from 14 patients, where of 13 show white matter changes and one shows a normal MRI at age one month. Four patients have additional structural abnormalities, two of them a Blakes Pouch cyst. Motor function depends on the disease type, in the congenital form 13/16 are able to hold the head up, 8/14 are able to sit and roll over. We present additional data about epilepsy, ventilation and cardiological findings as well as cognitive abilities and school settings. On the basis of this newly developed registry, we are able to draw a more detailed picture of this patient group. With further prospective data collection we gain information about the natural history.

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