Alstrom Syndrome

Definition

Definition of Alstrom Syndrome
Alstrom 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 in 47 countries. It was first described by Carl-Henry Alstrom in Sweden in 1959. Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms.

Symptoms

Symptoms of Alstrom Syndrome

1. 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.
2. Light sensitivity and vision problems (Cone-rod dystrophy) in all cases, usually within 15 months of birth and progressively worsening until about 20 years of age.
3. Developmental delays in 50% of cases, learning disabilities in about 30% of cases.
4. 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).

Causes

Causes of Alstrom Syndrome
This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals 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. The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.

Diagnosis

Diagnosis of Alstrom Syndrome
The Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated the single gene (ALMS1) responsible for Alström Syndrome. The gene is recessive; it must be passed from both parents for the syndrome to manifest.

It is possible to clinically detect Alstrom syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is often diagnosed clinically, since genetic testing is costly and only available on a limited basis.

Treatment

Treatment of Alstrom Syndrome
There is no specific treatment for this syndrome. Treatment for symptoms may include:

1. Diabetes medication
2. Hearing aids
3. Heart medications
4. Thyroid hormone replacement

Prognosis

Prognosis of Alstrom Syndrome

1. The prognosis will depend on the progression of glucose intolerance, cardiomyopathy, renal dysfunction and liver impairment.
2. Total blindness and deafness are likely to develop.

Prevention

Prevention of Alstrom Syndrome
Consult with your doctor.