Alstrom syndrome diagnostic criteria: Difference between revisions

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| 3-14 years || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome  
| 3-14 years || • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome  


• Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG)  
• Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by [[electroretinography]] (ERG)  


|| • Obesity and/or [[insulin resistance]] and/or Type 2 Diabetes  
|| • Obesity and/or [[insulin resistance]] and/or Type 2 Diabetes  

Revision as of 16:00, 25 February 2013

Alstrom syndrome Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Overview

It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.

Diagnostic Criteria

Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.

Age Range Major Criteria Minor Criteria Criteria Required Other Supportive Features
Birth - 2 years ALMS1 mutation in 1 allele and/or family history of Alström Syndrome

• Vision pathology (nystagmus, photophobia)

Obesity

Dilated cardiomyopathy with congestive heart failure

Minimum diagnosis requires 2 major criteria

OR

1 major and 2 minor criteria

Recurrent pulmonary infections, normal digits, delayed developmental milestones
3-14 years • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome

• Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG)

• Obesity and/or insulin resistance and/or Type 2 Diabetes

• History of dilated cardiomyopathy with congestive heart failure

Hearing loss

• Hepatic dysfunction

Renal failure

• Advanced bone age

Minimum diagnosis requires 2 major criteria

OR

1 major and 3 minor criteria

Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency
15 years - adulthood • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome

• Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG)

• Obesity and/or insulin resistance and/or Type 2 Diabetes

• History of dilated cardiomyopathy with congestive heart failure

• Hearing loss

• Hepatic dysfunction

• Renal failure

Short stature

• Males: hypogonadism, Females: irregular menses and/or hyperandrogenism

Minimum diagnosis requires 2 major and 2 minor criteria

OR

1 major and 4 minor criteria

Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia

References


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