Autosomal Dominant Distal Muscular Dystrophy: Report of A Family.
- Author:
Young Kwan PARK
1
;
Il Nam SUNWOO
;
Je Geun CHI
Author Information
1. Department of Neurology, Yonsei University, Wonju College of Medicine, Korea.
- Publication Type:Case Report
- MeSH:
Arm;
Biopsy;
Creatine Kinase;
Distal Myopathies*;
Hand;
Humans;
Leg;
Muscle Weakness;
Muscle, Skeletal;
Muscles;
Reference Values;
Upper Extremity
- From:Journal of the Korean Neurological Association
1990;8(2):349-352
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Ihree cases in a family had progressive muscle weakness and atropy affecting distal hands at first and later involvement of proximal arms and legs. The disorder seemed to be inherited through an autosomal dominant trait with symptom onset in early adulthood, and with slow progression. In one of these patients, the EMG revealed myopathic processes in the muscles of upper extremity and tibialis anterior and gastrocnemius muscles. Biopsy of the left rnedial gastrocnemius muscle showed variation in fiber size, regenerating fibers with vaculoes and mild inflammatory changes. However serum creatine kinase was within normal range. EMG study in others showed similar myopathic processes. The severity and widespreadness of symptoms and EMG abnormalities seemed to be related to the duration of the disease.
