Dysequilibrium Syndrome

Common Name(s)

Dysequilibrium Syndrome, VLDLR-Associated Cerebellar Hypoplasia

This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia ({24:Schurig et al., 1981}; {7:Glass et al., 2005}). Genetic Heterogeneity of CAMRQ CAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 ({610185}), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 ({613227}), caused by mutation in the CA8 gene ({114815}) on chromosome 8q11; and CAMRQ4 ({615268}), caused by mutation in the ATP8A2 gene ({605870}) on chromosome 13q12.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dysequilibrium Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dysequilibrium Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Dysequilibrium Syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
 

Author(s): Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, Joseph G Gleeson, Lihadh Al-Gazali

Journal:

 

Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. The condition has been classified into cerebellar ataxia, mental retardation and disequilibrium syndrome types 1 (CAMRQ1), ...

Last Updated: 12 Nov 2012

Go To URL
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
 

Author(s): Kym M Boycott, Carsten Bonnemann, Joachim Herz, Stephanie Neuert, Chandree Beaulieu, James N Scott, Anuradha Venkatasubramanian, Jillian S Parboosingh

Journal: J. Child Neurol.. 2009 Oct;24(10):1310-5.

 

Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. Here, we report the first patient heterozygous for 2 novel mutations in VLDLR. An 18-month-old girl presented with significant ...

Last Updated: 6 Oct 2009

Go To URL
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
 

Author(s): Lia Abbasi Moheb, Andreas Tzschach, Masoud Garshasbi, Kimia Kahrizi, Hossein Darvish, Yaser Heshmati, Alireza Kordi, Hossein Najmabadi, Hans Hilger Ropers, Andreas Walter Kuss

Journal: Eur. J. Hum. Genet.. 2008 Feb;16(2):270-3.

 

We have investigated a consanguineous Iranian family with eight patients who suffer from mental retardation, disturbed equilibrium, walking disability, strabismus and short stature. By autozygosity mapping we identified one region with a significant LOD score on chromosome 9(p24.2-24.3). ...

Last Updated: 17 Jan 2008

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dysequilibrium Syndrome" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Scleroderma Registry
 

Status: Recruiting

Condition Summary: Systemic Sclerosis; Scleroderma

 

Last Updated: 8 Apr 2014

Go to URL