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What is Alstrom Syndrome?

Swedish psychiatrist Carl-Henry Alstrom described a rare autosomal recessive genetic disorder known as Alstrom syndrome. The condition causes multiple organs failure in the patient. With only 501 known cases and 266 reported cases, it is one of the rarest diseases of the world.

The Jackson Laboratory in Miami, United States and University of Southampton in the United Kingdom found that mutation in the gene ALMS1 is responsible for this disorder. This article tries to gain further insight on the ailment.

Alström Syndrome

Symptoms of Alstrom Syndrome: Functions of the protein associated with ALMS1 gene are unknown. However structural changes in the gene can affect the production of this protein. As a result, the signs become apparent in the early years of life and in some cases, they are found in later years of life. These signs are:

  • In 60 percent cases, heart failure takes place in the first few weeks of birth or during the onset of adulthood.
  • Vision problems and light sensitivity seen in 100 percent cases which start with first 15 months of birth and become worse progressively until adulthood.
  • Obesity in all the cases which becomes evident by the 5 year of age
  • In half of the cases, there are developmental delays
  • In 30 percent cases, the patient has learning difficulties

Diagnosis: Though mostly done clinically, this disorder can be diagnosed in infancy. Genetic testing is a costly affair and available in limited places. Moreover, doctors fail to identify the signs as those of this disorder in early stages as they appear to be represent symptoms of different ailments.

There is a very close similarity between the mentioned signs of this syndrome with another genetic ailment known as Bardet-Biedl syndrome. Owing to this reason, many experienced physicians also fail to diagnose it.

In spite of these challenges in diagnosis, a comprehensive guideline was prepared in 2007. It provides the way to find this genetic disorder in different age groups. According to this guideline:

Diagnosis of the Syndrome:

From Birth – 2 Years:
Heart failure and obesity are minor criteria. Family history of the disorder, vision problem and mutation in the gene ALMS1 are major criteria. It is important that either 1 major and two minor criteria or 2 major criteria be found for completion of diagnosis in this stage.

From 3-14 Years:

Minor Criteria:

  • Advanced bone age
  • Obesity
  • Type 2 diabetes
  • Hearing loss
  • Heart failure
  • Liver dysfunction and
  • Kidney failure

Major Criteria are mutation of the ALMS1 gene, family history and vision problems. 2 major criteria or 3 minor and 1 major criteria should be found to diagnosis the disorder at this stage.

Other associated complications are: Frequent urinary tract infection, recurrent infections in the lungs, delays in development, hypertension, hypothyroidism, growth hormone deficiency and scoliosis.

From 15 Years – Adulthood:

Minor Criteria:

  • Type 2 diabetes
  • Obesity
  • Hearing loss
  • Heart failure
  • Kidney failure
  • Liver dysfunction
  • Short stature

Major Criteria are the same as that of other age groups. The above mentioned additional complications in the body are found even in this stage too.

Facts to Know About Alstrom Syndrome:

  • Both the parents must pass on a copy of the mutated gene to an off-spring for the development of the disease.
  • These parents might not have the symptoms of this genetic disorder.
  • The cilium is an important component of human cell. When there is dysfunctional molecular mechanism in this structure, multiple organs in the body get affected at once.

Conclusion: Class of genetic disorders caused owing to this undesirable development in the body is called Ciliopathy. Alstrom syndrome belongs to this class. Research studies have found that large number of genetic ailments and conditions are basically related. If further research unravels the connection between them, then a single of approach treatment might address all these ailments at once.

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