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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alström syndrome


Other Names for this Disease
  • ALMS
  • ALSS
  • Alstrom's syndrome
  • Alstrom syndrome
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Tests & Diagnosis

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Is genetic testing available for Alström syndrome?

Genetic testing of the ALMS1 gene is available for Alström syndrome. Although genetic testing is not necessary to make a diagnosis of Alström syndrome, it can be helpful to confirm a diagnosis. If a mutation is not identified in both copies of the ALMS1 gene of an individual suspected to have Alström syndrome, it does not rule out the diagnosis.[1]
Last updated: 6/14/2016

How is Alström syndrome diagnosed?

Alström syndrome is diagnosed based on clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis can be complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alström syndrome, although it can be useful to confirm a diagnosis.[1][2]

A table listing diagnostic criteria categorized by age is available through GeneReviews. 
Last updated: 6/14/2016

References
  1. Marshall J, Paisey RB, Carey C, Macdermott S. Alström syndrome. GeneReviews. May 31, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1267/.
  2. Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • ALMS
  • ALSS
  • Alstrom's syndrome
  • Alstrom syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.