What Is Coffin-Lowry Syndrome?
Coffin – Lowry Syndrome as stated is a genetic medical condition , which is 10 - tie dominant and have terrible mental retardation along with wicked growth abnormalities , cardiac event , kyphoscoliosis , as well as audition and ocular disorders . This condition is characterized by intellectual disability , unretentive stature , musculoskeletal abnormalities , and sudden attack of repeated muscleman weakness . Symptoms are usually more severe in male person than female .
What Are The Causes Of Coffin-Lowry Syndrome?
Majority of the people suffering from Coffin - Lowry Syndrome have a mutation in the RPS6KA3 cistron , which is present in the short weapon of chromosome X. The subroutine of this gene is to control production of RSK2 protein . This protein controls bodily function of other genes , which is extremely essential for nerve cell survival . It also make for an important role in hearing and memory of a individual . The mutant in RPS6KA3 gene results in a deficiency in the production of the RSK2 protein causing casket – Lowry Syndrome .
What Are The Symptoms Of Coffin-Lowry Syndrome?
Symptoms Of Coffin–Lowry Syndrome Include:
How Is Coffin-Lowry Syndrome Diagnosed?
The diagnosis of Coffin – Lowry Syndrome is made base on the signs and symptom of the disease . Skeletal x - rays are done to identify other characteristics of this upset . The x - electron beam findings may unwrap inadequate skeletal maturity , increase skull heaviness , abnormally large sinus , narrowed pelvis , and other abnormalities of the musculoskeletal arrangement . Genetic examination also to look for mutation in the RPS6KA3 also confirms the diagnosing of Coffin – Lowry Syndrome .
What Are The Treatments For Coffin-Lowry Syndrome?
As of now , there is no percipient snub curative for casket – Lowry Syndrome and discourse is shoot for at command symptoms of this disease and render measures to foreshorten disablement . Any cardiac abnormality needs to be identified and treat at its earliest so close cardiac monitoring is required for people with Coffin – Lowry Syndrome . Routine x - ray of light examinations should also be done to check on the position of the spine . If spinal abnormalities become too seeable then a corset may be required .
Apart from this , veritable neurological examination should be carry out to control on the increment status of the mortal .
even ophthalmologic and audile rating should also be done to hold in on the status of vision and take heed and treat any abnormalities if present . If involve , hear help can also be give to help with hearing impairment .
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