Alstrom Syndrome: Symptoms, Causes, Information
Synopsis: Alstrom syndrome is characterized by a progressive loss of both hearing and vision, as well as a form of heart disease which weakens and enlarges a person's heart. Almstrom syndrome is caused by mutations in the ALMS1 gene, which provides instructions for making a protein whose currently unknown function. The modifications in the gene most likely lead to the production of abnormally short and nonfunctional versions of the ALMS1 protein. The syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene. They commonly do not exhibit symptoms or signs of Alstrom syndrome.
Defining Alstrom Syndrome
Alstrom syndrome is a rare genetic disease affecting several parts of a person's body. The syndrome is named for Swedish doctor Carl-Henry Alstrom, who first described it in 1959. Alstrom syndrome presents several signs and symptoms that start in infancy or early childhood, although symptoms may also appear later in a person's life.
Alstrom syndrome is characterized by a progressive loss of both hearing and vision, as well as a form of heart disease which weakens and enlarges a person's heart, referred to as, 'cardiomyopathy.' People with the syndrome can experience diabetes type II, as well as short stature. The syndrome may cause serious or life-threatening medical issues that involve the person's kidneys, liver, lungs, or bladder. Some people with Alstrom syndrome experience a skin condition known as 'Acanthosis nigricans,' which causes their skin, in body folds and creases, to become dark, thick, and velvety. The symptoms of Alstrom syndrome can vary in severity; not all persons affected by the syndrome experience all of the features of the disorder.
The U.S. Social Security Administration (SSA) has included Alstrom Syndrome as a Compassionate Allowance to expedite a disability claim.
Causes of Alstrom Syndrome
Almstrom syndrome is caused by mutations in the ALMS1 gene, which provides instructions for making a protein whose currently unknown function. The mutations in the gene most likely lead to the production of abnormally short and nonfunctional versions of the ALMS1 protein. The protein is usually present at low levels in most tissues; a loss of the protein's usual functioning might explain why the symptoms and signs of Alstrom syndrome affect several parts of a person's body.
The syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene. They commonly do not exhibit symptoms or signs of Alstrom syndrome. For example, if a mother and father have the gene, there is a twenty-five percent chance that their children will inherit one mutated gene from each of their parents. The children who receive mutated genes from both parents have Alstrom syndrome.
Symptoms of Alstrom Syndrome
Vision and Alstrom Syndrome
Among the first symptoms commonly noticed in association with Alstrom syndrome is extra sensitivity to light and rapid eye movement, referred to as 'photophobia' and 'nystagmus.' The symptoms are caused by a slow deterioration of the person's retina, composed of layers of film in the back of the eye that holds photoreceptors. Photoreceptors capture light, sending visual information to the person's brain through their optic nerve. The photoreceptors themselves, used for seeing in situations where light is well-presented, are referred to as 'cones.' These cones commonly deteriorate first in the eyes of children with the syndrome, with the remaining photoreceptors being referred to as 'rods.' These rods work best only in situations that are dimly lit. The rods also have the potential to cease functioning as children with Alstrom syndrome age.
The described condition is called 'cone-rod dystrophy' and is sometimes diagnosed as 'Retinitis pigmentosa.' Children with this condition may benefit from tinted glasses that can include a corrective prescription, enlarged print, monocular telescopes, magnifiers, electronic magnifiers, and other assistive technologies. When children with this condition reach their adolescent years, many have little or no vision.
Hearing and Alstrom Syndrome
Children with Alstrom syndrome may also lose their hearing ability. Loss of hearing ability may happen while the person is in childhood, or it may happen during adulthood. The hearing loss is referred to as 'sensorineural,' meaning that there is a loss of nerve function in the person's hearing system. Auditor information is not being transmitted to the person's brain for processing. Hearing aids are something that people with Alstrom syndrome may benefit from.
Heart Issues and People with Alstrom Syndrome
Some people with Alstrom syndrome experience enlargement of their heart, referred to as 'dilated cardiomyopathy.' The condition can present itself while the person is in infancy, although it can also show up as late as adolescence. Persons with this condition have a heart that has difficulty pumping blood efficiently to every part of their body. Blood and fluid can build up in the person's lungs, causing them to be short of breath. Their feet, ankles, and legs have the potential to swell with fluid as well. When this occurs, it is referred to as 'congestive heart failure,' and while the person's heart does not stop, it does not work as well as it should. Some medications can help to remove excess fluids from the person's tissues, and others may assist the person's heart to function better.
Additional Symptoms of Alstrom Syndrome
Alstrom syndrome may affect other organs in a person's body differently. People with the syndrome can develop type II diabetes during childhood or adolescence because their body does not process insulin appropriately. Children might become insulin resistant. While people with Alstrom syndrome who have type II diabetes may not always have to take insulin, they should follow a careful diet. People with this syndrome many times have higher levels of triglycerides in their blood as well.
Alstrom syndrome can affect the kidneys and liver of people with the disorder. Issues surrounding the functioning of these organs commonly present themselves when the person is in childhood or adolescence. However, a doctor should monitor people with the syndrome annually through blood testing. Liver or kidney failure is a cause of severe problems for adults with Alstrom syndrome.
Weight issues, such as being overweight as children, as well as being shorter as adults than family members are other symptoms of Alstrom syndrome. People with the syndrome usually have a similar level of intelligence to family members, although they may experience learning difficulties related to either vision or hearing loss. Additional conditions that can be the result of Alstrom syndrome include curvature of the spine (scoliosis), high blood pressure, thyroid issues, and digestive problems.
Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.
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Cite This Page (APA): Thomas C. Weiss. (2010, February 11). Alstrom Syndrome: Symptoms, Causes, Information. Disabled World. Retrieved February 27, 2024 from www.disabled-world.com/disability/types/alstrom-syndrome.php
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