Diagnosis of a Centronuclear Myopathy Case in Appalachia 20 Years from Symptom Onset.

Authors

Christopher Burrell, Marshall University Joan C Edwards School of MedicineFollow
Zachary Wilson, University of Colorado HospitalFollow
Dominika Lozowska, Marshall University Joan C Edwards School of MedicineFollow

Author Credentials

Christopher Burrell BS Zachary Wilson DO Dominika Lozowska MD BSc

Keywords

Centronuclear myopathy, dynamin 2, DNM2, muscular dystrophy, weakness

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Medicine and Health Sciences

Abstract

Dynamin 2 (DMN2) mutations cause centronuclear myopathy (CNM) and Charcot Marie Tooth (CMT). Herein we discuss the details of a patient's case of adult onset CNM. We also highlight the unique features of this case with regards to the importance of electromyography (EMG), muscle biopsy and genetic testing in identifying CNM, as well as potential for improving outcomes by having a high index or suspicion and emphasizing better access to healthcare in underserved areas.

Recommended Citation

Burrell C, Wilson Z, Lozowska D. Diagnosis of a Centronuclear Myopathy Case in Appalachia 20 Years from Symptom Onset.. Marshall J Med. 2018; 4(4): 9 DOI: