Genetics of Alstrom Syndrome

Are you searching for information on the genetics of alstrom syndrome? If so, keep reading to learn more.
This disorder is inherited and very rare. This genetic disorder may result in a variety of other health conditions, including blindness, diabetes, deafness,and obesity. This disorder was initially described in 1959 by Carl-Henry Alstrom, a Swedish doctor. Only about 500 people worldwide have been reported to get this genetic disorder. Learning about the genetics of Alstrom syndrome could help patients and the ones caring for them better understand their symptoms and which treatments may be best for them.
The genetics of Alstrom syndrome involve the genes responsible along with the inheritance pattern. ALMS1 gene mutations are responsible for causing this disorder. Very little is well known about this gene and what its functions and responsibilities are. It is also unknown how this gene exactly causes this genetic disorder. The disorder is inherited in the autosomal recessive pattern (read more: When an autosomal recessive inheritance pattern occurs, it means that both of the child's parents a single copy of the mutated gene, however, generally, both parents do not have any in the signs and symptoms of this disorder. This disorder is seen less often in the United States and much more often in Sweden.
The signs and symptoms of this disorder vary greatly this also genetic disorder generally seems to affect many areas of the body. The more common signs or symptoms may include:

Other signs or symptoms may also occur and these can sometimes include:

Possible complications related to this genetic disorder may include:

Several different diagnostic tests is possible to evaluate and diagnose this disorder. The doctor may focus on the sufferer's indicators because there is no current test that may provide a definitive diagnosis just for this disorder. If the sufferer is experiencing vision problems or any visual symptoms, an ophthalmologist could possibly be necessary to perform thorough eye examination. Other possible testing may be done to assess the patient's:

As nowadays, no specific treatment methods or treatment course has been created just for this genetic disorder. Treatment is dedicated to controlling the signs the patient experiences and also possible. Possible answer to a patient's symptoms can sometimes include:

Genetics Home Reference. (2008). Alstrom Syndrome. Retrieved on September 14, 2010 from Genetics Home Reference:

Alstrom Syndrome International. (2008). What is Alstrom Syndrome. Retrieved on September 14, 2010 from Alstrom Syndrome International:

MedlinePlus. (2008). Alstrom Syndrome. Retrieved on September 12, 2010 from MedlinePlus:

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