Alstrom syndrome is an acquired disorder marked by blindness, deafness, diabetes, and obesity. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The disorder is characterized by a progressive loss of vision and hearing, enlargement of the heart and weakening of the heart muscle, obesity, type 2 diabetes mellitus, and short stature.
This disorder can also affect the liver, kidneys, bladder, and lungs. Individuals with alstrom syndrome have been identified in over 20 countries. Although the syndrome is generally rare, it is unusually frequent among acadians, both those living in nova scotia and those in louisiana.
Alstrom syndrome is an autosomal recessive condition. Alstrom syndrome is sometimes confused with Bardet biedl syndrome, which has similar symptoms. Bardet biedl syndrome tends to have later onset in its symptoms. Both parents carry one copy of the Alstrom gene and each of their offspring has a 25% risk of inheriting both of their Alstrom genes and of therefore having the syndrome. Some particulars with Alstrom syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. Signs and symptoms of this disorder vary in severity, and affected individuals may not have all of the characteristic features of the disorder.
Infants present with rapid back and forth motion and light sensitivity which leads to retinal disintegration. Diabetes and high cholesterol increase the risk of coronary artery disease. Impaired heart function, if untreated, can lead to fatigue and shortness of breath. Urological problems can occur, rarely leading to the need for catheterisation or even urinary diversion. Some people who have Alstrom syndrome have other problems, too. They have a hard time hearing. The hearing loss usually starts when they are ten years old. It is a slow loss so they have time to get used to it. They may have a hard time feeling things with their hands as well. Parents who have children who have achromatopsia may not have known that they have alstrom syndrome in their bodies.
There is no specific treatment for this syndrome. People who have Alstrom syndrome have trouble seeing in bright light. It hurts their eyes. It makes things blurry. Bright light makes them want to close their eyes. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. Diabetes can be treated with oral medications, insulin, or a combination of both. Cholesterol can be reduced with medications. Hearing can be augmented with hearing aids. If heart abnormalites are present, medications such as ACE inhibitors, beta-blockers, or spironolactone can be given to improve heart function. Hypothyroidism can be treated with thyroid hormone replacement.
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