alstrm syndrome
DESCRIPTION
Background Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases. It was first described by Carl-Henry Alström in Sweden in 1959. It is more common in Holland and Sweden than in the United States.TRANSCRIPT
Alström Syndrome
Background
• Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases. It was first described by Carl-Henry Alström in Sweden in 1959. It is more common in Holland and Sweden than in the United States.
• Alström syndrome is a rare autosomal( two copies of gene must be present) recessive disease characterized by multiorgan dysfunction. It is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes, and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.
• High-risk couples, in which the man and the woman are each carriers of an alteration in ALMS1, have a 25% chance with each pregnancy of conceiving a child with Alstrom Syndrome. There is a 50% chance of producing a child who is a carrier like the parents and a 25% chance that the child will be neither a carrier nor affected.
• Cytogenetic Location: 2p13. Molecular Location on chromosome 2: base pairs 73,466,393 to 73,690,553. The ALMS1 gene is located on the short (p) arm of chromosome 2 at position 13. More precisely, the ALMS1 gene is located from base pair 73,466,393 to base pair 73,690,553 on chromosome 2.
• Alström Syndrome can be diagnosed clinically, however genetic testing is very expensive so many times it is not an option. From birth to age 2 the major criteria looked for to diagnose is the ALMS1 gene mutated and vision pathology. From 3-14 years old the same criteria applies but doctors also look for obesity as well as cardiomyopathy(heart muscle disease) as symptoms of the syndrome. And from age 15-adulthood the same criteria is looked for as well as short stature as well as a defect in the gonads (hypogonadism) and irregular menses.
There is no specific treatment for this syndrome. Treatment for symptoms may include:
• Diabetes medication • Hearing aids • Heart medications • Thyroid hormone replacement
Bibliography• "Alstrom Syndrome." www.ghr.gov. N.p., n.d. Web. 9
Nov. 2009. <http://ghr.nlm.nih.gov/condition=alstromsyndrome>.
• "Definition of Alstrom Syndrome." www.medicinenet.com. N.p., 4 Oct. 2004. Web. 9 Nov. 2009.<http://www.medterms.com/script/main/art.asp?articlekey=20241>.
• Marshall, Robert. "Genetics of Alstrom." www.alstrom.org. N.p., 25 Oct. 2009. Web. 9 Nov. 2009. <http://www.alstrom.org/families/mode_inherit.html>.