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Genetics of Alstrom Syndrome Information for Patients

written by: R. Elizabeth C. Kitchen•edited by: Emma Lloyd•updated: 9/28/2010

Are you looking for information on the genetics of alstrom syndrome? If so, read on to learn more.

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    This disorder is inherited and very rare. This genetic disorder can result in a variety of other medical conditions, such as blindness, diabetes, deafness,and obesity. This disorder was first described in 1959 by Carl-Henry Alstrom, a Swedish doctor. Only about 500 people worldwide have been reported to have this genetic disorder. Learning about the genetics of Alstrom syndrome may help patients and those caring for them better understand their symptoms and which treatments may be best for them.

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    The genetics of Alstrom syndrome involve the genes responsible and the inheritance pattern. ALMS1 gene mutations are responsible for causing this disorder. Very little is known about this gene and what its functions and responsibilities are. It is also unknown how this gene exactly causes this genetic disorder. The disorder is inherited in an autosomal recessive pattern. When an autosomal recessive inheritance pattern is present, it means that both of the child's parents had a single copy of the mutated gene, however, in most cases, both parents do not have any of the signs and symptoms of this disorder. This disorder is seen less often in the United States and more often in Sweden.

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    The signs and symptoms of this disorder vary greatly and this genetic disorder seems to affect many areas of the body. The more common signs and symptoms may include:

    • Severe vision impairment or blindness during infancy
    • Deafness
    • Obesity
    • Slowed growth
    • Dark patches of skin also known as acanthosis nigricans
    • Cardiomyopathy, or impaired heart function that may ultimately result in heart failure
    • Progressive kidney failure
    • Symptoms of type 2 or childhood-onset diabetes

    Other signs and symptoms may also occur and these may include:

    • Gastrointestinal reflux
    • Liver dysfunction
    • Hypothyroidism
    • Small penis

    Possible complications related to this genetic disorder may include:

    • Diabetes-related complications
    • Shortness of breath or fatigue if poor heart function is left untreated
    • Coronary artery disease due to high cholesterol and diabetes
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    Several different diagnostic tests can be done to evaluate and diagnose this condition. The doctor will mostly focus on the patient's signs and symptoms because there is no current test that can provide a definitive diagnosis for this disorder. If the patient is experiencing vision problems or any visual symptoms, an ophthalmologist may be necessary to perform a thorough eye examination. Other possible testing may be done to assess the patient's:

    • Blood sugar levels
    • Heart function
    • Triglyceride levels
    • Hearing
    • Thyroid function
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    As of today, no specific treatment methods or course of treatment has been created for this genetic disorder. Treatment is focused on controlling the signs and symptoms the patient experiences as well as possible. Possible treatment for a patient's symptoms may include:

    • Diabetes medications
    • Heart medications
    • Hearing aids
    • Thyroid hormone replacement
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    Genetics Home Reference. (2008). Alstrom Syndrome. Retrieved on September 14, 2010 from Genetics Home Reference:

    Alstrom Syndrome International. (2008). What is Alstrom Syndrome. Retrieved on September 14, 2010 from Alstrom Syndrome International:

    MedlinePlus. (2008). Alstrom Syndrome. Retrieved on September 12, 2010 from MedlinePlus: