oculopharyngodistal myopathy 2

An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(

An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13.

Signs and symptoms

• Bulbar palsy
• Distal muscle weakness
• Fatty replacement of skeletal muscle
• Weakness of facial musculature
• Increased endomysial connective tissue
• Ptosis
• Rimmed vacuoles
• EMG: myopathic abnormalities
• Increased variability in muscle fiber diameter
• Elevated circulating creatine kinase activity