Alstrom syndrome

Infobox_Disease
Name = Alstrom syndrome


Caption =
DiseasesDB = 465
ICD10 =
ICD9 =
ICDO =
OMIM = 203800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
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Alström syndrome is a rare genetic disorder. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and only 411 known cases in 42 countries. It was first described by Carl-Henry Alström in Sweden in 1959. Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms.

According to a 2007 article by Joy et al publilshed in the [http://ojrd.com/ Oprhanet Journal of Rare Diseases] :

"Alström syndrome (AS) is a rare autosomal recessive disease characterized bymultiorgan dysfunction. The key features are childhood obesity, blindness due tocongenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologicfeatures include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia.Thus, AS shares several features with the common metabolic syndrome, namelyobesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene havebeen found to be causative for AS with a total of 79 disease-causing mutations havingbeen described."cite journal | author=Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN |title=Alstrom syndrome (OMIM 203800): a case report and literature review. | journal=Orphanet Journal of Rare Diseases | year=2007 | volume=2 | issue=1 | pmid = 18154657 | url=http://www.ojrd.com/content/pdf/1750-1172-2-49.pdf | doi=10.1186/1750-1172-2-49 |pages=49]

Diagnosis

The Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated the single gene (ALMS1) responsible for Alstrőm Syndrome. The gene is recessive; it must be passed from both parents for the syndrome to manifest.

It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.

Early symptoms

*Heart failure (Dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood.
*Light sensitivity and vision problems (Cone-rod dystrophy) in all cases, usually within 15 months of birth and progressively worsening until about 20 years of age
*Developmental delays in 50% of cases, learning disabilities in about 30% of cases
*Obesity in 100% of cases, apparent by 5 years of age, but often apparent in infancy (Alström infants usually have normal birth weights, and by adolescence, weights tend to be in the high-normal to normal range)

Further symptoms

*Progressive hearing loss
*Kidney problems
*Liver problems
*Insulin resistance/Type 2 diabetes

Relation to other rare genetic disorders

Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely-varying, phenotypically-observed disorders. Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Meckel-Gruber syndrome and some forms of retinal degeneration. [cite journal
last = Badano
first = Jose L.
authorlink =
coauthors = Norimasa Mitsuma, Phil L. Beales, Nicholas Katsanis
title = The Ciliopathies : An Emerging Class of Human Genetic Disorders
journal = Annual Review of Genomics and Human Genetics
volume = 7
issue =
pages = 125-148
publisher =
location =
date = Sep 2006
url = http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610
doi = 10.1146/annurev.genom.7.080505.115610
id =
accessdate = 2008-06-15] .

References

External links

*
* [http://www.jax.org/alstrom Alström Syndrome International home page]
* [http://alstrom.org.uk The UK Alström Syndrome Support Group Home page]