Alstrom Syndrome

Overview

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Alstrom Syndrome

Topic type

Condition

Category

Ophthalmology

MeSH classification

C10.500.300.099|C10.574.500.495.099|C10.668.829.800.300.099|C11.270.684.249|C16.131.077.245.063|C16.131.666.300.099|C16.320.184.063|C16.320.290.684.249|C16.320.400.375.099

Preparing for an appointment about Alstrom Syndrome

If you are speaking with a healthcare professional about Alstrom Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Alstrom Syndrome

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