Magnetic resonance imaging and computed tomography of skeletal muscles in oculopharyngeal muscular dystrophy

Abstract

Objective: : To determine the spectrum of skeletal muscle involvement by neuroimaging in patients with oculopharyngeal muscular dystrophy (OPMD).

Methods: : A neuroradiologist, blinded to severity of patients' dystrophy, retrospectively read 22 magnetic resonance or computed tomography images of the head, neck, chest, abdomen, pelvis, and proximal leg from 13 patients with OPMD. Imaged muscles were evaluated for degree of fatty infiltration and bulk in a semiquantitative fashion using similar images from age-matched patients lacking neuromuscular disease. Neurologic examinations were performed without knowledge of imaging results.

Results: : We found abnormal tongue fatty infiltration in all patients and widespread infiltration in many other muscles. Over 50% of masseter, posterior neck, shoulder girdle, lumbar paraspinous, and gluteus muscles had abnormal fat.

Conclusion: : Although patients with OPMD have dysphagia with weak lids and proximal limbs, they have neuroimaging evidence of widespread fatty infiltration of many muscles. Excessive fatty infiltration of the tongue may help identify atypical patients with OPMD.