What are mucopolysaccharide storage diseases? What are their signs and symptoms? And what treatment options are available for patients?
These are just some of the questions explored in this latest e-book from MPS Austria, the only Austrian charity working to support families and individuals living with mucopolysaccharidoses (MPS) and related disorders.
Authored by Ass Prof Dr Dr Susanne Gerit Kircher, who in 2016 was recognised with the ‘Life for MPS Scientific Award’ of the International MPS – Working Party, this comprehensive e-book is an invaluable guide to all those interested in learning more about mucopolysaccharide storage diseases.
What is MPS?
Mucopolysaccharidoses belong to a group of heterogeneous, inherited conditions characterised by the deficiency of specific lysosomal enzymes needed to degrade glycosaminoglycans. This causes cells and organs to swell up and lose function and, eventually, leads to cell death, resulting in severe physical and/or intellectual disabilities.
Its symptoms – which are not usually evident at birth – include enlargement of the liver, spleen, heart and tongue, narrowing of the airway and spinal cord, reduced joint mobility, and skeletal deformations. As such, individuals with mucopolysaccharide storage diseases require 24/7 care.
It is here that MPS Austria comes in, a national charity committed to raising awareness of mucopolysaccharidoses and improving research and understanding. Its main aim is to make daily life easier for families with children who suffer by providing emotional and financial advice and support.
Inside this e-book
With this in mind, this e-book includes dedicated sections on:
- Ear, nose and throat (ENT), the first symptoms and signs
- Orthopaedic problems
- Heart problems
- Ophthalmologic features and
- Sleep disturbances and sleep apnoea.
The importance of early diagnosis and multidisciplinary management, the risks posed by anaesthesia, and the wide spectrum of symptoms that characterise the different types of MPS are also discussed in this e-book, which represents the latest contribution in Health Europa Quarterly’s ongoing working relationship with MPS Austria.