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How to Test for ALMS

According to the US National Library of Medicine, Alstrom Syndrome (known as ALMS) is an extremely rare genetic disorder which occurs when children inherit a specific, defective gene from either parent. The disease abnormally affects vision and hearing, as well as liver, kidney and heart function. Because of the diverse symptoms, patients may seek treatment for these singular problems without knowing that they are multiple symptoms of ALMS. The best way to test for the disease is to proactively monitor its constituent symptoms, and engage a medical support team to treat them.

Things You'll Need

  • Home test kits
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Instructions

  1. Heart

    • 1
      ALMS affects blood circulation in children, adolescents, and adults.

      Purchase a heart test which appropriately identifies if your heart muscle is having difficulty pumping blood to the rest of your body. If it does, this is called dilated cardiomyopathy.

    • 2

      See your family physician to discuss any changes in your body's fluid retention. Cadiomyopathy can lead to fluid buildup in the lungs, feet, ankles and legs. If this occurs, it is wise to seek a cardiologist, a doctor that specializes in issues of the heart.

    • 3

      If seeing a cardiologist, request other tests for more detailed information on your heart condition.

    • 4

      If diagnosed with cardiomyopathy, call 9-1-1 if you feel any shortness of breath. This may indicate the onset of congestive heart failure, and it can happen specifically with ALMS patients.

    Ear

    • 5
      Hearing loss with ALMS causes information loss.

      Purchase a home hearing test to identify if you have any general hearing loss.

    • 6

      If you self-identify hearing loss, request a referral from your family physician to a licensed audiologist.

    • 7

      Book monthly hearing assessments with the audiologist to specifically monitor sensineural hearing loss. This occurs when a loss (or impairment) of nerve function stops auditory information from getting to the brain. ALMS patients need ongoing monitoring and treatment.

    Kidney

    • 8
      The kidney is one of the body's most crucial food processors.

      See your physician immediately if you notice patterned changes in urine flow. It may be caused by ALMS.

    • 9

      Request a blood test that assesses kidney function. That test will evaluate the levels of creatinine and blood urea nitrogen (BUN) in your blood and urine.

    • 10

      Stop taking some medications, as directed by your doctor, before the test to ensure the most accurate result.

    Vision

    • 11
      ALMS patients need treatment for retinal deterioration over time.

      Book an appointment with your physician for a general vision test. There are many types of vision loss, but ALMS patients suffer especially from photophobia and nystagmus: sensitivity to light and rapid eye movement.

    • 12

      Ask an eye specialist, or opthamologist, for assistance in treating retinitis pigmentosa, or cone-rod dystrophy. According to Alstrom Syndrome International (ASI), this occurs as ALMS patients age.

    • 13

      The US National Library of Medicine advises that you call 9-1-1 if you experience temporary partial blindness, double vision, the sensation of a shade being pulled over your eyes, halos around light sources, or pain in the eye itself. These general guidelines are especially applicable to ALMS patients due to the progressive nature of the disease.

    • 14
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