What causes Alstrom Syndrome?

Alström syndrome is caused by disruptions or defects (mutations) in the ALMS1 gene. The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. Alström syndrome is inherited as an autosomal recessive trait.

Is Alstrom Syndrome a disability?

Even though Alstrom Syndrome is included in the SSA’s listing of impairments that qualify for the Compassionate Allowances program, you need to include as much medical evidence as possible when submitting your disability claim.

What is the life expectancy of Alstrom Syndrome?

Any person that has the syndrome have different set of disorders. Permanent blindness, deafness and type 2 diabetes may occur. Liver and kidney failure can progressively get worse. The life expectancy is usually reduced and the patients rarely live past 50 years old.

What is Cohen’s syndrome?

Cohen syndrome is a fairly variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye abnormalities, and non-progressive intellectual disability.

Is there a cure for Alstrom Syndrome?

There is no cure for Alstrom syndrome, but careful monitoring of vision, hearing, liver, heart, thyroid, and kidney function is important for detecting and treating symptoms early. Young children benefit from red-tinted prescription glasses, development of non-visual language skills, and hearing aids.

What are the common features of Alstrom Syndrome?

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy ), obesity, type 2 diabetes (the most common form of diabetes), and short stature.

Can Cohen syndrome be cured?

There is no cure for Cohen syndrome . Treatment is focused on improving or alleviating the signs and symptoms in the patient.

Is DCM curable?

How is dilated cardiomyopathy treated? There is no cure for DCM but most of the symptoms can be controlled by medication and other treatments to help you live your normal life. The type of medication or treatment you might have will depend on: your symptoms.

What are the mutations in the ALMS1 gene?

Alström syndrome is caused by mutations in the ALMS1 gene . It is inherited in an autosomal recessive manner. [1] While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.

How is Alstrom syndrome inherited from each parent?

Alström syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the ALMS1 gene in each cell. [1] Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier.

What are the signs and symptoms of Alstrom syndrome?

In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease ( cardiomyopathy ). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop. [2] Alström syndrome is caused by mutations in the ALMS1 gene .

Is there a cure or cure for Alstrom syndrome?