Alström syndrome, also referred to as Alstrom-Halgren syndrome, is a rare genetic disorder caused by mutations in the gene ALMS1. It’s one of the deadliest genetic disorders on earth, as now it’s just 266 reported instances in medical sciences and above 501 known instances in 47 nations. Alstrom syndrome is occasionally mistaken for Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome will have after onset of its own symptoms. The chance of two carrier parents both passing the gene and consequently with a child affected by the syndrome is 25 percent with every pregnancy. The probability of having a kid who’s just a carrier of this gene is 50 percent with every pregnancy. The possibility of a child getting regular genes from both parents and being regarded as “genetically” ordinary is 25 percent. The danger of carrying the receptor is equal for both females and males.
“Alström syndrome (AS) is an uncommon autosomal recessive disease characterized by multiorgan dysfunction. The critical features are youth obesity, blindness because of congenital bronchial dystrophy, and sensorineural hearing loss. Associated endocrinologic attributes include hyperinsulinemia, early-onset type two diabetes, and hypertriglyceridemia.”
Therefore, AS shares many attributes with the typical metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene are shown to be causative for AS using a total of 79 disease-causing mutations having been clarified.” Prevalence estimates have ranged from 1 in 10,000 to fewer than 1 in 1,000,000 people in the general populace.
Signs and symptoms of Alström Syndrome
- Obesity in 100% of cases, apparent by 5 years of age, but often apparent in infancy (Alström infants usually have normal birth weights, and by adolescence, weights tend to be in the high-normal to normal range)[
- Nystagmus (usually affects the children) one of the first symptoms to occur which causes involuntary rapid eye movement.
- Heart failure (Dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood.(chronic)
- Mild to moderate bilateral sensorineural hearing loss.
- Type 2 diabetes usually occurs in early childhood.
- Hyperinsulinemia/ insulin resistance — development of a high level of insulin in blood.
- Steatosis (fatty liver) and elevated transaminases (liver enzymes) often develop in childhood and can progress in some patients with cirrhosis and liver failure.
- Endocrine dysfunctions may occur where the patient may experience an under or overactive thyroid gland, weak growth hormone, increased androgen in females, and low testosterone in males.
- Slowly progressive kidney failure can occur in the second to fourth decade of life.
Causes of Alström Syndrome
Alström Syndrome is a rare genetic disorder that affects multiple organ systems of the human body. This genetic disease is caused by a mutation of the ALMS1 gene. The gene mutation is inherited as an autosomal recessive trait. This means both parents need to pass on a copy of the ALMS1 gene in order to allow their child to have the syndrome even though the parents might not show symptoms or signs of the problem. It’s still thought of as unknown on the way the defective gene causes the disease.
Prevention of Alström Syndrome
Prevention of Alström Syndrome is regarded as harder in compared to other diseases/syndromes since it’s an inherited illness. But, there are different choices which are offered for parents with a family background of Alström Syndrome. Genetic testing and counselling can be found where individuals can fulfill a genetic counselor to talk about dangers of having the kids with the disorder. The genetic counselor might also help ascertain whether people carry the faulty ALSM1 receptor before the people conceive a child. A few of the evaluations that the genetic counselors perform comprise chorionic villus sampling (CVS), Preimplantation genetic analysis (PGD), and amniocentesis. With PGD, the embryos are analyzed for its ALSM1 gene and just the embryos which aren’t affected could be selected for implantation through in vitro fertilization.
