![]() ![]() The most frequent heart defect observed in each MPS and at any time-point of evaluation was mitral insufficiency 37% of our patients had mitral insufficiency already at diagnosis, and 60% at post-ERT follow-up. Our findings confirm that cardiac involvement is very common, already at diagnosis, in MPS VI (85.7% of our cohort), and in MPS II (68% of our cohort) followed by MPS I subjects (55% of our cohort). Moreover, we report a possible association between genetic variants and cardiac phenotype in homozygous and hemizygous patients to understand whether a more aggressive clinical phenotype would predict a greater cardiac damage. We describe the overall incidence and type of cardiac damage in a cohort of Italian MPS patients, and their progression over time, also with reference to treatment efficacy in patients under Enzyme Replacement Therapy (ERT). The course is chronic and progressive, with multisystemic involvement that often leads to cardiovascular disease. Individually selectable therapy programmes were also offered to help relieve pain and improve mobility including massage, craniosacral therapy, osteopathy, Feldenkrais, dog-assisted therapy, and group therapies such as back exercises, creative workshops, and Nordic walking.įind out more about Mucopolysaccharidosis and the MPS Austria Annual Therapy Week in this eBook.Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficit of lysosomal hydrolases involved in the degradation of glycosaminoglycans (GAGs). MPS Therapies to support patientsĪ total of 15 therapists took part in Therapy Week, offering treatments including hydrotherapy and physiotherapy in order to improve the mobility of patients, as MPS is a disorder of the connective tissues leading to reduced mobility. COVID-19 poses a high risk to MPS patients due to their comorbidity – however, the Therapy Week was able to go ahead towards the end of the summer, when patients and families were able to enjoy water therapy sessions and activities whilst observing social distancing rules. This year the 19th MPS Austria Annual Therapy Week took place during the unprecedented circumstances of the COVID-19 pandemic, which has been putting more pressure on MPS families than ever before. ![]() ![]() The charity aims to support these families with the therapy week by giving them a change of scenery and respite from the challenged of the daily MPS routine. MPS Austria want to help make these families lives easier and every year the charity holds the annual Therapy Week. Families and patients living with these conditions are often under immense pressure and stress due to the reduced quality of life that comes with the disorders. The Mucopolysaccharidosis diseases are caused by disorders in the metabolism of the lysosomes of each cell. Mucopolysaccharidosis are a group of rare, inherited, and incurable diseases, and MPS Society Austria aims to help people and families living with these diseases every day. ![]()
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