User:DamienS02/MASA syndrome

What does MASA stand for?

 * Mental retardation, aphasia, shuffling gait, and adducted thumbs (syndrome)

What MASA Syndrome is?
MASA syndrome, a rare X-linked recessive neurological disorder, is a hereditary spastic paraplegia, a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome. It is defined by 6 factors. Hydrocephalus, also called water in the brain, a condition where there is an abnormal buildup of CSF (cerebrospinal fluid) in the cavities (ventricles) of the brain. The build-up is often caused by an obstruction that prevents proper fluid drainage. Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement. Adducted thumbs, characterized by cleft palate, microcephaly, and dysmyelination. Aphasia, which is when someone loses the ability to understand or express speech, due to brain damage. Seizures, an abrupt, uncontrolled, disturbance in the brain. Lastly, agenesis of the corpus callosum, a rare disorder that occurs at birth. It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. The X-chromosome is interpreted by underdevelopment of hypoplasia (incomplete development of a tissue or organ) or agenesis (failure of an organ to develop during the embryonic growth), which connects to some parts of the brain. People with these symptoms lead to intellectual disabilities. There is also Spastic paraplegia type 1 which causes problems within the body and mildly any harm to brain.

* Spasticity is a condition in which muscles stiffen or tighten, preventing normal fluid movement. The muscles remain contracted and resist being stretched, thus affecting movement, speech and gait.

What it is caused by?
It is caused by a malfunction in a mutation in L1-CAM, which is an axonal glycoprotein that is essential for normal development of the central and peripheral nervous systems during the fetal period and postnatally.

What Gender is affected more
This is an X-linked pattern, which means males are affected more because males only have one X-chromosome so a mutation in that one chromosome would cause the condition. Females are less likely to be affected because they have more than just one X-chromosome; they also have the Y-chromosome. It has an effect of everyone in 30,000 males, even though they are affected fathers cannot pass the chromosomes to their sons. This syndrome is not common between any ethnic group.

How Does MASA affect you
MASA is a mental disease that can cause people to have symptoms of muscle stiffness, mental retardation, and delayed speech. For people that have a severe case of this it may cause them to have seizures. Also the life expectancy is varied depending on how bad the signs and symptoms are, some may last through adulthood and some won't make it far after birth.

Previous cases
The first case of the MASA Syndrome was found in a little boy in Asia. The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia. His family didn’t have any history with MASA syndrome. There is not just one specific doctor or scientist for this disorder. Since the L1 syndrome is composed of many X-linked disorders, more than one doctor or scientist may find the disorder in a person. Most of the doctors who find the disorder are Neuroscientists and some Pediatric Neurology specialists.

Can it be treated? If so how?
As of now, the only treatment for this disease is expertise in pediatrics, child neurology, neurosurgery, rehabilitation, and medical genetics. As some parts of the body can be damaged through time to time it can be useful to have the expertise to identify what other ways they can help for the complete health of the child.

Special clinics or hospitals?

There are no special hospitals to help patients with MASA syndrome. Usually, if you go to the hospital they will run some tests on the person and will ask for a couple of the symptoms to be able to diagnosed with the syndrome.