Oculopharyngeal Muscular Dystrophy Ptosis, Mueller’s Muscle Involvement, and a Review of Management Over 34 Years

Abstract Background Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness. A common cause of OPMD is the short expansion of a GCG or GCA trinucleotide repeat in PABPN1 gene. Case presentation A 78-year-old woman presented with ptosis and gradually progressive dysphagia. Her son had the same symptoms. A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. Needle-electromyography (EMG) of bulbar and facial muscles revealed a myopathic pattern. Based on the characteristic muscle involvement pattern and needle-EMG findings, we suspected that the patient had OPMD. Gene analysis revealed PABPN1 c.35G > C point mutation, which mimicked the effect of a common causative repeat expansion mutation of OPMD. Conclusion We herein describe the first reported Japanese case of OPMD with PABPN1 point mutation, suggesting that this mutation is causative in Asians as well as in Europeans, in whom it was originally reported.

Download Full-text

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2018-319578 ◽

2018 ◽

Vol 90 (5) ◽

pp. 576-585 ◽

Cited By ~ 9

Author(s):

Alicia Alonso-Jimenez ◽

Rosemarie H M J M Kroon ◽

Aida Alejaldre-Monforte ◽

Claudia Nuñez-Peralta ◽

Corinne G C Horlings ◽

...

Keyword(s):

Muscular Dystrophy ◽

Clinical Data ◽

Genetic Disorder ◽

Muscle Pathology ◽

Oculopharyngeal Muscular Dystrophy ◽

Imaging Studies ◽

Muscle Mri ◽

Muscle Involvement ◽

Adductor Magnus ◽

Fatty Replacement

Background and objectiveOculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data.MethodsWe present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data.ResultsFatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment.ConclusionsWe have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.

Download Full-text