The King's Speech and Those With Spasmodic Dysphonia

The film "The King's Speech," nominated for Oscars in 12 categories for the 83rd Annual Academy Awards hits home for many who suffer from stuttering. However, I am sure this story also has empathetically affected those patients who suffer from spasmodic dysphonia. What is spasmodic dysphonia ? Think of it as stuttering of the voicebox where the words get stuck in the throat level rather than the mouth level. Both conditions result in patients severely limiting their social…

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Genetic Cause for Stuttering?

It appears that at least in some individuals, their stuttering may be caused by a genetic mutation, specifically a missense mutation in the N-acetylglucosamine-1-phosphate transferase gene (GNPTAB), which encodes the alpha and beta catalytic subunits of GlcNAc-phosphotransferase protein (part of the lysosomal enzyme–targeting pathway). Other genetic mutations causing stuttering was found in the GNPTAB, GNPTG, and NAGPA genes. These genes encode enzymes that generate the mannose-6-phosphate …

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