Dekaban-Arima syndrome

Common Name(s)

Dekaban-Arima syndrome, Arima syndrome, Cerebello-oculo-renal syndrome

Dekaban-Arima syndrome (DAS) is a genetic condition along the spectrum of Joubert syndrome and related disorders (JSRD). It is characterized by severe vision loss or impairment known as Leber's amaurosis and multicystic kidneys (kidneys covered in cysts and scar tissue). DAS is caused by underdevelopment or abnormal development of a part of the brain known as the cerebellar vermis, which manages balance and coordination. Many issues may come from this underdevelopment, and the most common symptoms of DAS include developmental delays or mental impairment, poor growth, retinal (eye) dystrophy, poor functioning or multicystic dysplastic (abnormal development of) kidneys, and decreased muscle tone. Repeated eye rubbing, poking or pressing at the eyes is a sign of severe eye impairment or Leber's amaurosis and is a common behavior. Other, less common symptoms that may occur include poor coordination, rapid eye movements, abnormally shaped eyes or eye parts (i.e. retina, cornea, etc.), abnormally functioning liver and abnormal breathing patterns. Diagnosis is often made through an MRI where the underdevelopment of the cerebellar vermis, indicated by a "Molar Tooth" sign, can be seen by the doctor. There is currently no treatment for DAS, but speaking with specialists who can help manage the condition is recommended as well as frequent checkups. Dialysis and medications may be necessary to manage the associated kidney conditions. DAS is inherited or passed from parent to child as an autosomal recessive condition. Both parents must carry the changed gene that causes DAS in order to have a child with this condition. Each child of two carrier parents has a 25% chance of having the condition. Genetic counseling can help in understanding the underlying causes and recurrence risks. It is best to talk with your doctor to find the best treatment options. Support groups are also a good source of information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dekaban-Arima syndrome" for support, advocacy or research.

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 "Dekaban-Arima syndrome" for support, advocacy or research.

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 "Dekaban-Arima syndrome" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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

 
 
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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: 22 Aug 2017

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