Alstrom syndrome

Common Name(s)

Alstrom syndrome

Alstrom syndrome is a rare genetic condition that can affect many parts of the body including the eyes, ears, and heart. Symptoms typically begin to appear during infancy and may become worse over time. The key features of Alstrom syndrome include vision problems due to congenital (present at birth) damage to the retina (back of the eye), hearing loss, childhood obesity (excess body weight), and a condition called dilated cardiomyopathy, which occurs when the heart muscle becomes weakened and enlarged. Other symptoms include short stature, early type 2 diabetes mellitus, liver disease, high lipid levels, and kidney disease. The severity of these symptoms varies within each individual. Most individuals with Alstrom syndrome will have normal intelligence, while some may have delays in their developmental milestones and cognitive abilities.

Alstrom syndrome is inherited in an autosomal recessive manner, meaning it occurs as a result of mutations (changes) within both copies of the ALMS1 gene. Often times a doctor will use a child’s medical history and physical exam to determine whether they are likely to have the condition and then use genetic testing of the ALMS1 gene to confirm the diagnosis.

In order to manage Alstrom syndrome, a child may need regular vision exams, hearing tests, lung exams, thyroid function tests, kidney function tests and heart evaluations. Although there is no specific treatment for this condition, there are treatments to manage many of the symptoms. Tinted prescription lenses, weight control, exercise, hearing aids, treatment for cardiac congestion, high dose statins to control cholesterol, hormone treatments, or insulin treatment may be recommended depending on an individual’s symptoms. Talk with your child’s doctor about the most current treatment options. Support groups are also good resources for support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alstrom syndrome" for support, advocacy or research.

Alstrom Syndrome International

Alstrom Syndrome International's mission is to provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alstrom Syndrome.

Last Updated: 16 Apr 2015

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Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 1 Nov 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alstrom syndrome" for support, advocacy or research.

Alstrom Syndrome International

Alstrom Syndrome International's mission is to provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alstrom Syndrome.

http://www.alstrom.org

Last Updated: 16 Apr 2015

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Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 1 Nov 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alstrom syndrome" returned 41 free, full-text research articles on human participants. First 3 results:

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.
 

Author(s): Fayez Bahmad Jr, Carolina Sousa Alves Costa, Marina Santos Teixeira, Jairo de Barros Filho, Lucas Moura Viana, Jan Marshall

Journal: Braz J Otorhinolaryngol. 2014 Apr;80(2):99-104.

 

Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characterized by a progressive degeneration of sensory functions, resulting in visual and audiological impairment, as well as metabolic disturbances such as childhood obesity, hyperinsulinemia, and diabetes mellitus type 2.

Last Updated: 16 May 2014

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Combined occurrence of Alström syndrome and bronchiectasis.
 

Author(s): Avni Kaya, Zerrin Orbak, Atilla Cayir, Hakan Döneray, Sener Tasdemir, Aysegül Ozantürk, Fatih Bingöl

Journal: Pediatrics. 2014 Mar;133(3):e780-3.

 

Alström syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the gene ALMS1. This rare disorder's characteristics are cone-rod dystrophy resulting in blindness in childhood, insulin-resistant type 2 diabetes mellitus, truncal ...

Last Updated: 3 Mar 2014

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Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
 

Author(s): Satoshi Katagiri, Kazutoshi Yoshitake, Masakazu Akahori, Takaaki Hayashi, Masaaki Furuno, Jo Nishino, Kazuho Ikeo, Hiroshi Tsuneoka, Takeshi Iwata

Journal:

 

No mutations associated with Alström syndrome (AS), a rare autosomal recessive disease, have been reported in the Japanese population. The purpose of this study was to investigate the genetic and clinical features of two brothers with AS in a consanguineous Japanese family.

Last Updated: 9 Dec 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alstrom syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Alstrom syndrome (OMIM 203800): a case report and literature review.
 

Author(s): Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, Paul N Durrington

Journal:

 

Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, ...

Last Updated: 11 Mar 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 6 Jan 2015

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