Conditions / Genetic
oculopharyngodistal myopathy 4
info · Genetic
An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime
An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24.
Signs and symptoms
- Distal muscle weakness
- Areflexia
- Postural tremor
- Ptosis
- Rimmed vacuoles
- EMG: myopathic abnormalities
- Dysarthria
- Weakness of facial musculature
- Dysphagia
- External ophthalmoplegia