Affiliation

Penn State Hershey Medical Center, Department of Neurology

Corresponding Author

Madar Elise, Penn State College of Medicine, Hershey Medical Center, Department of Neurology – EC037, 30 Hope Drive, Hershey, PA 17033, USA, Fax: 717-531-4696; Tel: 717-531-0000; E-mail: wjens@pennstatehealth.psu

Citation

Madar E. Oculopharyngeal Muscular Dystrophy Case Report. (2018) J Clin Trials Pathol Case Stud 3(1): 1- 4.

Copy rights

© 2018 Madar E. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License.

Keywords

Abstract

Background: Oculopharyngeal muscular dystrophy (OPMD) is an aptly named disease characterized by ptosis and swallowing difficulties with possible subsequent involvement of proximal skeletal muscles. Diagnosis is based on history and clinical exam and confirmed with genetic testing, with muscle biopsy being reserved for negative DNA results.
Case Summary: A 59 year old right-handed woman presented for evaluation of weakness in bilateral lower extremities as well as difficulty swallowing. The patient states that she started with her symptoms in the last 6 months, when she noticed she had difficulty walking and maintaining balance, especially on uneven surfaces. She does complain of difficulty swallowing and right eye drooping more than left, both have been progressive over many years. She denies any shortness of breath, history of stroke or any sensory symptoms. Her mother has recently been diagnosed with confirmed oculopharyngeal muscular dystrophy. Therefore, she wanted to get established in the neuromuscular clinic for further evaluation.
  On physical exam, cognitive exam was normal. Right eye ptosis greater than left was noted. No facial wasting noted. Strength exam was noted to be equal and normal throughout with exception of bilateral hip flexors at 4+. Sensation and reflexes were preserved. On EMG, myopathic units were observed. In her workup prior to presentation, her PCP had ordered a myasthenia gravis panel and MRI which were negative. Her PABPN1 testing came back consistent with OPMD and the diagnosis was given to the patient.
Conclusion: Oculopharyngeal muscular dystrophy (OPMD) is an aptly named disease characterized by ptosis and swallowing difficulties with possible subsequent involvement of other proximal skeletal muscles. It is primarily autosomal dominant involving PABPN1 GCN trinucleotide repeats with rare instances of recessive genotypes. Diagnosis is based on history and clinical exam and confirmed with genetic testing, with muscle biopsy being reserved for negative DNA results. Symptom management is the crux of treatment and often involves blepharoplasty and/or cricopharyngeal myotomy.