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Diagnosis of Alström Syndrome

A diagnosis of Alström syndrome is made upon a thorough clinical evaluation, identification of characteristic findings (e.g., cone-rod dystrophy, sensorineural hearing impairment, cardiomyopathy, obesity, kidney dysfunction, diabetes), and a variety of specialized tests.

A diagnosis of Alström syndrome may be difficult because of delayed onset of certain key characteristics including diabetes, cardiomyopathy, and kidney disease. The absence of certain findings (e.g., polydactyly, intellectual disability) distinguishes Alström syndrome from similar syndromes such as Bardet-Biedl syndrome or Laurence-Moon syndrome.

An eye specialist (ophthalmologist) using specialized tests can make diagnosis of disorders affecting the retina of the eye such as Alström syndrome

Individuals with a suspected diagnosis of Alström syndrome should receive a thorough physical examination to detect the potential presence of additional heart, endocrinological, and kidney abnormalities often associated with Alström syndrome.

Molecular genetic testing can confirm a diagnosis of Alström syndrome. Molecular genetic testing can detect mutations in the ALMS1 gene known to cause the disorder.

 

Signs and Symptoms-Alström Syndrome

Causes of Alström Syndrome

 

Treating Alström Syndrome

 

 

More Topics

Type 1 Diabetes Neonatal diabetes
Type 2 Diabetes Gestational Diabetes
Wolfram Syndrome Maturity onset diabetes of the young-MODY
Preventing complications of Diabetes

 


 

References:

rarediseases.org/rare-diseases/alstrom-syndrome/

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