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Allan-Herndon-Dudley Syndrome

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Sydney Hatton

on 2 December 2012

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Transcript of Allan-Herndon-Dudley Syndrome

Sydney Hatton Allan-Herndon-Dudley Syndrome Allan-Herndon-Dudley Syndrome is a recessive X-linked disorder caused by a mutation in the SLC16A2 gene. It only occurs in males because it is X-linked. What are the symptoms?
Hypotonia (low muscle tone)
Unable to hold up head at 6 months
Speaking difficulty
Impaired ability to control voluntary movements
Athetoid movements
Motor retardation
Muscle wasting
Joint contractures
Poor reflexes
Long face
Bitemporal narrowing
Large ears
Mental retardation
Lack of control of voluntary leg movements
Weak infant neck muscles
Inability to walk
Inability to talk
Underdeveloped muscles
Symptoms: AHDS was among the first X-linked disorders to be discovered in 1944.
There has been research for cures and treatments for Allan-Herndon-Dudley syndrome, but there has been no found cures, and there has also been research on the mutations in different Allan-Herndon-Dudley carrying families. Research: Pedigree Charts of 6 AHDS carrying families: There has been 25 families with 89 individuals that have been recorded with AHDS.

The life expectancy of an individual with AHDS is usually relatively long, but they are usually unable to walk and are wheelchair-bound. There should be more research for AHDS because there is barely any as of now. There is no treatment and definitely no cure. The symptoms of AHDS are very painful and cause for the individual to never not have help and they will never have a completely normal life.
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