Alström Syndrome is a very rare genetic disease, with only 431 reported cases worldwide, with more cases reported in Holland and Sweden, than the US. A child must inherit the gene from both parents to be affected, as this is an autosomal recessive inherited disorder.Infants present with rapid back and forth motion (nystagmus) and light sensitivity (photophobia) which leads to retinal disintegration. Children gain weight, becoming obese. As they grow, most organs are affected as blindness and hearing loss sets in. Type 2 diabetes, liver and heart failure, pulmonary fibrosis and kidney failure often follow.
Hypothyroidism, scoliosis and short stature are other signs of Alström Syndrome
From the Alström Syndrome International web site:
The following manifestations are observed in most Alström Syndrome cases:
- nystagmus and photodysphoria in early infancy
- progressive pigmentary retinopathy (cone-rod dystrophy) leading to blindness
- childhood obesity, often moderating to high-normal weight in adulthood
- mild to moderate bilateral sensorineural hearing loss
- congestive heart failure secondary to dilated cardiomyopathy in infancy or early adulthood
- normal extremities / absence of polydactyly or syndactyly
- hyperinsulinemia / insulin resistance
- non-insulin dependent diabetes mellitus (Type 2 diabetes or NIDDM) developing in early adulthood
- progressive chronic nephropathy that presents as tubular dysfunction
- normal intelligence with some reports of delayed early developmental milestones
For additional information, visit this Medline site:
http://www.nlm.nih.gov/medlineplus/ency/article/001665.htm
1 comment:
Here is a link to more information about the genetics ofAlström Syndrome that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Alström_Syndrome/30. I hope it helps. AccessDNA
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