Understanding MASA Syndrome

Unfortunately the developmentally disabled can get lumped into one group of people. However in within this heading there are many different versions and syndromes. There are also higher functioning and lower functioning autistic people. The severity of the disability is different per gender and genetic trait that they were passed down along the way. One of the more severe and rare forms of mental retardation is MASA Syndrome.

Symptoms of the syndrome are mental retardation, aphasia (inability to speak or understand language), a shuffling gait, and adducted thumbs. With this syndrome not all these symptoms occur it is dependent on the person. However being severely developmentally disabled is almost always the common link. Men and women that have this syndrome usually cannot speak nor can they converse with others, not because they cannot hear but because they cannot comprehend and learn speech. The thumbs and gait are due to the fact that MASA changes the form and bone structure of the person as well. People with MASA usually do not get very tall, their growth is stunted and their bones fragile. The spine can also curve inwardly causing severe pain. Other symptoms of this disease are yellow eyes, muscle weakness, and heart issues as well. This is disease is so rare it actually affects less than 200,000 people in the US currently. They relate MASA's symptoms to that of paraplegia. Unfortunately most peop0le that are born with MASA do not live a long time. There are so many other problems that most people have due to the MASA that most do not even get out of their teenage years.

This syndrome is linked to the X-Chromosome specifically. So it is seen more in Men than women. It is passed down genetically by the male side. Since this is a recessive gene, it does not always hit every generation; it can skip many and show up down the line. Another name for this syndrome is Gareis-Mason Syndrome. However in many medical studies they have found is 3 generations of one family 14 people had MASA and only one was female. The gene can be tested for within families looking to have children however the test is not 100 proof positive if you have the gene that could cause this within your own children.

There is not a simple solution to this syndrome. There are children and adults currently living with this disease with full help and support of their families, and many believe although speech is not possible that they still realize the love and support they are given. There are also specific psychologists that are educated in help people with MASA syndrome. Although there is no cure it is at least a small comfort that there are doctors specifically trained to help people with this debilitating disease.