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

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 19 May 2015

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General Support Organizations

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How do you compare to others with this condition?

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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

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 19 May 2015

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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 50 free, full-text research articles on human participants. First 3 results:

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease.
 

Author(s): Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett, Tarekegn Geberhiwot

Journal:

 

Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national service for an ultra-rare disease, Alstrom ...

Last Updated: 25 Nov 2015

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Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.
 

Author(s): Nicola C Edwards, William E Moody, Mengshi Yuan, Adrian T Warfield, Robert Cramb, Richard B Paisey, Tarekegn Geberhiwot, Richard P Steeds

Journal:

 

Alström syndrome is a rare inherited ciliopathy with progressive multisystem involvement. Dilated cardiomyopathy is common in infancy and recurs or presents de novo in adults with high rates of premature cardiovascular death. Although Alström syndrome is characterised by fibrosis ...

Last Updated: 27 Jun 2015

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Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.
 

Author(s): Richard B Paisey, Jamie Smith, Catherine Carey, Timothy Barrett, Fiona Campbell, Pietro Maffei, Jan D Marshall, Christopher Paisey, Richard P Steeds, Nicola C Edwards, Susan Bunce, Tarekegn Geberhiwot

Journal: J. Clin. Endocrinol. Metab.. 2015 Aug;100(8):E1116-24.

 

Alström syndrome is characterized by increased risk of cardiovascular disease from childhood.

Last Updated: 7 Aug 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 17 Nov 2015

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Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome
 

Status: Recruiting

Condition Summary: Inflammation and Fibrosis; Diabetes

 

Last Updated: 11 Apr 2016

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