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

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
 

Author(s): Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou

Journal:

 

Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.

Last Updated: 20 Jul 2017

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Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.
 

Author(s): Ayman A Bakar, Naglaa Mohamed Kamal, Abdulaziz Alsaedi, Reem Turkistani, Dima Aldosari

Journal: Medicine (Baltimore). 2017 Mar;96(10):e6192.

 

Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.

Last Updated: 8 Mar 2017

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Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.
 

Author(s): Katarina Braune, Ines Volkmer, Martin S Staege

Journal:

 

The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. ALMS1 mutations cause Alstrom syndrome, a rare genetic ...

Last Updated: 30 Jan 2017

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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 2 free, full-text review articles on human participants. First 3 results:

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
 

Author(s): Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz-Güleç, Ender Karaca, M Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Muller, Jürgen K Naggert, Rıza Köksal Özgül

Journal: J. Hum. Genet.. 2015 Jan;60(1):1-9.

 

Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. ...

Last Updated: 27 Jan 2015

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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

Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome
 

Status: Not yet recruiting

Condition Summary: Alström Syndrome

 

Last Updated: 18 Sep 2017

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Clinical Study of a Single Ciliopathy: Alström Syndrome
 

Status: Recruiting

Condition Summary: Alström Syndrome (ALMS)

 

Last Updated: 31 Aug 2016

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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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