Carrier Woman of Duchenne Muscular Dystrophy Mimicking Inflammatory Myositis.
10.3346/jkms.2011.26.4.587
- Author:
Jiyeol YOON
1
;
Se Hoon KIM
;
Chang Seok KI
;
Min Jung KWON
;
Mie Jin LIM
;
Seong Ryul KWON
;
Kowoon JOO
;
Chang Gi MOON
;
Won PARK
Author Information
1. Division of Rheumatology, Department of Internal Medicine, Inha University Hospital, Incheon, Korea. parkwon@inha.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Muscular Diseases;
Muscular Dystrophy, Duchenne;
Carriers State
- MeSH:
Adult;
Creatine Kinase/blood;
Diagnosis, Differential;
Dystrophin/metabolism;
Echocardiography;
Exons;
Female;
Heterozygote;
Humans;
Magnetic Resonance Imaging;
Muscle Weakness;
Muscular Dystrophy, Duchenne/*diagnosis/genetics/pathology;
Myositis/diagnosis/genetics/pathology;
Transaminases/blood
- From:Journal of Korean Medical Science
2011;26(4):587-591
- CountryRepublic of Korea
- Language:English
-
Abstract:
Carrier woman of Duchenne muscular dystrophy (DMD) can mimic the inflammatory myositis in presenting symptoms. Two diseases should be differentiated by the clinical history, muscle biopsy and genetic study. There are few reports in which both histochemical and genetic study showed the possible link of overlapping inflammatory pathophysiology with dystrophinopathy. We report a 40-yr-old woman who presented with subacute proximal muscle weakness and high serum level of creatine kinase. She had a history of Graves' disease and fluctuation of serum liver aminotransferase without definite cause. MRI, EMG and NCV were compatible with proximal muscle myopathy. Muscle biopsy on vastus lateralis showed suspicious perifascicular atrophy and infiltration of mono-macrophage lineage cells complicating the diagnosis. Dystrophin staining showed heterogeneous diverse findings from normal to interrupted mosaic pattern. Multiple ligation probe amplification and X chromosome inactivation test confirmed DMD gene deletion mutation in exon 44 and highly skewed X inactivation.
