What are Mucopolysaccharide (MPS) Diseases?
MucoPolySaccharidosis (MPS) are congenital and slow-progressing metabolic diseases, which can be deadly, if left untreated.
Caused by a genetic disorder leading to malfunctions of proteins (enzymes), the diseases affect children of healthy parents. Due to the defective enzyme, certain metabolites (the mucopolysaccharides) cannot be broken down. When that happens, they build up and store in the cells thus destroying them, which subsequently leads to heavy physical and mental disabilities.
Because eleven different enzymes are affected, the term MPS includes a wide range of disorders. The symptoms range from skeletal abnormalities, dysfunctions of inner organs such as heart, liver, spleen up to impairment of brain function. Some of the children go blind, most of them are hard of hearing and almost all are of small stature.
The average life expectancy of an untreated MPS patient is 15 years.
Early diagnosis of MPS
How can MPS be recognized at an early stage?
First signs of MPS can be:
- Constant infections of the upper airways (middle ear, lungs)
- Large head and short neck compared to the rest of the body
- Coarse facial features
- Umbilical and / or inguinal hernia
- Big belly
Further signs can be:
- Stiff joints and trouble moving
- Bone abnormalities: knock-knees, pigeon chest, humpback or claw hands (short, broad hands with contorted fingers)
- Short stature
- Delayed development
- Enlarged tongue
- Wide nose, flat nasal bridge
- Hearing disorder
- Difficult child (maladjusted)
MPS is a group of disorders with similar conditions and then again not. Therefor this list should only be used as a guide.
We assume that many patients remain unreported (undiagnosed patients) in Austria, especially those at gentle course. We would like to find all affected children, young people as well as adults in order to help and provide support to them and their families.
The Society for MucoPolySaccharidosis – MPS Austria – provides help – in word and deed, emotionally as well as financially.
Early diagnosis of MPS is important for two reasons:
Meanwhile there are therapies such as bone marrow transplantation and / or enzyme replacement therapy (ERT) for half of the MPS types that influence the course of the disease positively – however, the effectiveness of the treatment is dependent on the patient’s age when starting the treatment: the earlier, the better. Already existing organ damages cannot be reversed.
Since it is an inheritable metabolic disease, there is a significant risk that future siblings will be affected again.
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