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|
| DiseaseID |
HGD34 |
| Genetic
Disorder |
Alström Syndrome
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| Gene
Name |
ALMS1gene |
| Description |
Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age
|
| Symptoms |
Blindness or severe vision impairment in infancy
Symptoms of childhood-onset or type 2 diabetes
Obesity
Deafness
Dark patches of skin (acanthosis nigricans)
Growth retardation
Impaired heart function (cardiomyopathy), which may lead to heart failure
Progressive kidney failure
Occasionally, the following are also associated:
Hypothyroidism
Liver dysfunction
Small penis
Gastrointestinal reflux
|
| Causes |
Alström syndrome is an autosomal recessive inherited disorder, which means that a person must inherit a copy of the defective gene from both parents in order to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.
The mutated gene, ALMS1, has been identified, but it is not yet known how this gene causes the disorder. |
| Diagnosis |
Alström Syndrome is characterized by a constellation of progressive and highly variable disease symptoms. Diagnosis is made on the basis of clinical features observed, usually without genetic confirmation. Delay of onset of some of the characteristic features (T2DM, DCM/CHF, hepatic dysfunction, pulmonary, and renal disease) makes early differential diagnosis very difficult in young children, as many of the cardinal features do not become apparent until the teenage years. As the child grows, the characteristic pattern of Alström Syndrome evolves and the clinical picture becomes clearer. A diagnosis of Alström Syndrome is proven at any age when two ALMS1 mutations, each coming from one parent, have been identified in the patient.
An ophthalmologist will examine the eyes. The patient may have reduced vision.
Tests may be done to check:
• Triglyceride levels
• Blood sugar levels (to diagnose hyperglycemia )
• Thyroid function
• Hearing
• Heart function (echocardiogram may be abnormal)
|
| Treatment |
There is no specific treatment for this syndrome. Treatment for specific symptoms may include:
Diabetes medication
Hearing aids
Heart medications
Thyroid hormone replacement |
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