Conditions / Genetic
oculopharyngodistal myopathy 3
info · Genetic
An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat ex
An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21.
Signs and symptoms
- Limb muscle weakness
- Increased endomysial connective tissue
- Rimmed vacuoles
- Hyporeflexia
- Dysarthria
- Ptosis
- Ophthalmoplegia
- Increased CSF protein concentration
- Increased variability in muscle fiber diameter
- Elevated circulating creatine kinase activity