What is SanFilippo?

Sanfilippo syndrome is also known as mucopolysaccharidosis III or MPS III. It is a degenerative disorder caused by the inability of the body to break down certain chains of sugar molecules called mucopolysaccharides. The disease tends to cause mortality before age 20 years, although there are several exceptions and is currently not curable. The diagnosis tends to occur in the first few years of life when the child does not develop, as it could be expected, or begins to have losses in any developmental success.

is usually identified as a inherited disorder. The child's parents will not have this condition, but each of them will have a recessive gene that is handed over to the child. This is called autosomal recessive inheritance. If a person knows about someone in a family who had or has this situation, including aunts, uncles or cousins, a good idea before conception is tested with a partner. Both parents must have a Genaba it was expressed, but if one partner has it, it must be noted,In order to be aware of the next generation of children that they can bear a recessive gene.

Generally, there is no way to find out when a child is born that Sanfilippo syndrome is present unless it is highly suspicious and genetic testing is not performed. Some children with this disease have greater than a normal head, but many of them seem to be fully well. After the first year of life, some symptoms may occur, and this is the inability to achieve developmental gains, chronic diarrhea and agitation or poor behavior that deteriorates. Some children with this condition also have joint problems or stiffness in their feet and others may have seizures, develop confusion or dementia and be susceptible to respiratory infections.

In some children, there are brands of characteristic appearance that could indicate the Disease, including a larger head. Those who have this condition have stronger lips, more adults looking facialsElements and heavy eyebrows that can be strong and encounter the center. Hair can also be coarser or richer in growth than would usually be expected in a small child.

The degree to which Sanfilippo proceeds syndrome can be determined by type. There are four types of disease, marked and up to D. Each represents a lack of specific enzyme that makes it difficult to break long chain sugars. The type can partially determine the result. Type A is often considered the most serious and common.

Although there is no cure for SanFilippo syndrome, support of therapists, physiotherapists, work therapists and doctors' involvement can be essential. Medical treatment can help alleviate some conditions, even if it cannot fully change the course of the disease. Carers will need support and other children in the family who are not of condition can benefit from support and advice, as the problems with the behavior of the affected child may be problematic for the whole family and the certainty of losing sibling is emotionally serious.

Of course, the best possible treatment would be a way to cure the disease, and yet it remains elusive. Unfortunately, this can mean a short life for many children diagnosed with this disease. In new treatment in gene and stem cell therapy, it is a sincere wish that Sanfilippo syndrome becomes a treatable state one day.