oculopharyngodistal myopathy 1

An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_bas

An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.

Signs and symptoms

• Distal amyotrophy
• Muscle spasm
• Brain atrophy
• Rimmed vacuoles
• Muscle weakness
• Bilateral ptosis
• Myopathic facies
• Respiratory distress
• Dysarthria
• Dysphonia