Alstrom syndrome

Description: Alstrom syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstrom syndrome is characterized by a progressive loss of vision ...1

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Symptoms of Alstrom syndrome

Symptoms: The signs and symptoms of Alstrom syndrome vary among affected individuals. The age that symptoms begin also varies. Symptoms may first appear anywhere from infancy to early adulthood.[2] Signs and symptoms may include:[1, 3][2]

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Diagnosis of Alstrom syndrome

Diagnosis: Genetic testing of the ALMS1 gene is available for Alstrom syndrome. Although genetic testing is not necessary to make a diagnosis of Alstrom syndrome, it can be helpful to confirm a diagnosis. If a mutation is not identified in ...2

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Genetics of Alstrom syndrome

Genetic Changes: Mutations in the ALMS1 gene cause Alstrom syndrome . The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ...3

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Treatments: Alstrom syndrome

Treatment: There is no specific treatment for Alstrom syndrome. Treatment is focused on managing the symptoms present in each individual. This may involve a team of specialists including but not limited to: pediatricians, cardiologists, audiologists (hearing specialists), ophthalmologists, endocrinologists, and ...4

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)5 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ alstrom-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5787/ alstrom-syndrome
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ alstrom-syndrome
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5787/ alstrom-syndrome
  5. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ alstrom-syndrome

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