Definition
Alstrom syndrome is a rare autosomal recessive genetic disease characterized by infantile cardiomyopathy, childhood-onset obesity, cone photoreceptor dystrophy, hearing loss, and insulin resistance.
Symptoms
- Infantile dilated cardiomyopathy
- Obesity in early childhood
- Cone and rod dystrophy (photophobia, nystagmus)
- Sensorineural hearing loss
Reasons
Mutation in the ALMS1 gene.
Diagnosis
Clinical criteria, genetic testing.
Treatment
Cardiac treatment, diet, hearing aids, insulin resistance treatment.
Which Polyclinic Should You Apply To?
Pediatric Cardiology Clinic or Genetics Polyclinic
What to Do in an Emergency?
In case of cardiac failure or diabetic ketoacidosis, emergency services should be consulted.
This page is for general information purposes only.