oculopharyngeal muscular dystrophy การใช้

• Ptosis that is caused by a disease may improve if the disease is treated successfully, although some related diseases, such as oculopharyngeal muscular dystrophy currently have no treatments or cures.
• The expansion caused by the mutations on the PABPN1 gene ultimately interrupts the cellular mechanics of poly ( A ) RNA . In most cases oculopharyngeal muscular dystrophy is inherited via autosomal dominance.
• The PABPN1 mutation contains a GCG trinucleotide repeat at the 5'end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy ( OPMD ) disease.
• "' Oculopharyngeal muscular dystrophy "'( "'OPMD "') is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old.
• An expansion of the trinucleotide ( GCN ) repeat from normal 10 to 11-17 at the 5'end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy ( OPMD ) disease.