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Uner Tan Syndrome

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Rebecca Turner

on 4 April 2014

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Transcript of Uner Tan Syndrome

Many people take walking on two feet for granted, but imagine having to live life on all fours! Uner Tan syndrome is a genetic disease in which people affected can only walk when using both their hands and feet
Living with the disorder
The Ulas family are one of the first families with this genetic disease.They are a family of nineteen from Turkey , 5 of them were affected with the genetic disease and walked with a quadrupedal gait
Alex Jones & Rebecca Turner
Uner Tan Syndrome
Cures and treatment
Autosomal recessive gene inherited due to incest
Abnormalities to chromosomes 9p24 and 17p
The deformity occurs with the VLDLR gene on the chromosome
The VLDLR gene controls neuronal positioning and alignment in the cerebellum (the region of the brain that controls motor control)
Causes of the Disease
Underdevelopment in the cerebellum, particularly the narrow area between the two brain hemispheres
An overly smooth surface reducing the surface area of the brain which results in fewer neurons
Different individuals have slightly different nervous system abnormalities that mainly affect the cerebellum
Afflicted People
Many of the individuals affected live in small Turkish villages and are children of incest marriages.
The first discovery of Uner Tan syndrome was in 1917 and so far eight more discoveries have been made all of them of Turkish descent

severe mental retardation
involuntary rhythmic eye movement (eyes move quickly in one direction, and then slowly in the other)
Lack ability to communicate
communicate only by using sounds
Inability to coordinate muscle movement such as:
Fast changing movements of the limbs
Dysmetria:decrease in a range of motion
Some with this syndrome are totally unable to stand while others have been able to stand but not take steps
Besides the Ulas family, there have been several other cases of this genetic disease in Turkey
Because this genetic disease was just recently discovered, doctors have not yet found any possibility of gene therapy or treatment to aid in walking
Current Research
Uner Tan syndrome was first discovered by a Turkish scientist,Uner Tan.
Tan believes the disease is a type of reverse evolution
arm to leg ratio being close to those of the human-like apes
curved fingers during wrist-walking

An attempt was made by a mother to fix her daughter's problem. She attempted to force her daughter to walk upright by fastening stones on her legs and as a result the girl was able to walk upright but she is now ataxic. Ataxia is a lack of muscle coordination and basically has the same affects as Uner Tan disease.)
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