Alstrom syndrome is a form of rare genetic disease that affects several parts of a persons body.
Defining Alstrom Syndrome
Alstrom syndrome is a form of rare genetic disease that affects several parts of a person's body. The syndrome is named for Swedish doctor Carl-Henry Alstrom, who first described it in the year 1959. Alstrom syndrome presents a number of 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-threating 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,' that 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.
Causes of Alstrom Syndrome
Almstrom syndrome is caused by mutations in the ALMS1 gene, which provides instructions for making a protein whose function is currently unknown. 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 assist in explaining why the symptoms and signs of Alstrom syndrome affect a number of 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 that are commonly noticed in association with Alstrom syndrome are extra sensitivity to light and rapid eye movement, referred to as, 'photophobia,' and, 'nystagmus.' The symptoms are caused by a slow process of deterioration of the person's retina, which is composed of layers of film in the back of their 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 who have the syndrome, with the remaining photoreceptors being referred to as, 'rods.' These rods work best only in situations which are dimly lit. The rods also have the potential to cease functioning as children with Alstrom syndrome age.
The condition just described is referred to as, '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, as well as monocular telescopes, magnifiers, electronic magnifiers, and additional forms of assistive technologies. By the time children with this condition reach their adolescent years, many have little or no vision.
Hearing and Alstrom Syndrome
Children who have Alstrom syndrome may also begin to lose their ability to hear. 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 an 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 who have this condition have a heart that has difficulties with 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. There are medications that can help to remove excess fluids from the person's tissues, and others that 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, in different ways. People with the syndrome can develop diabetes type II 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, although 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 which are 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.