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Alstrom syndrome

Alstrom syndrome Definition

Alstrom syndrome is a very rare genetic disorder ? one of the rarest in the world, existing in only 266 reported cases in medical books and only 411 patients in 42 countries. First described by Carl Henry Alstrom in 1959, this condition is usually mistaken with Bardet-Biedl syndrome, which has resembling symptoms. However, the Bardet-Biedl syndrome usually have later onset with its symptoms.

Alstrom syndrome Diagnosis

The U.S. Jackson Laboratory and the UK University of Southampton isolated the single gene ?ALMS1? responsible for the Alstrom Syndrome. Since this gene is recessive, it should be passed from both parents for the condition to manifest. Alstrom syndrome can be clinically detected in infancy. However, it is more usually detected much later to cross out other symptoms that may be related to other problems. Alstrom syndrome is only diagnosed clinically because genetic testing is limited and rare.

Alstrom syndrome Symptoms and Signs

In more than 60% of patients with Alstrom's syndrome, heart failure occurs within the first few days or weeks after birth. However, in some cases, the onset of dilated cardiomyopathy is in adolescence or young adulthood. In all cases of Alstrom syndrome, light sensitivity and other vision problems occur. This usually appears after a year of birth, which progressively worsens until 20 years old. Almost half of patients with Alstrom experienced developmental delays and 30% had learning disabilities. All patients with Alstrom are clinically obese, which become apparent as early as 5 years old, but can also be seen in infants. Patients with severe cases of Alstrom's syndrome develop kidney problems, liver problems and progressive hearing loss. Some develop type 2 diabetes or insulin resistance.

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