Clinical characteristics of myotonic dystrophy / 临床神经病学杂志

ABSTRACT

Objective To summarize the clinical characteristics of myotonic dystrophy(DM).Methods The clinical data of 24 DM cases were analyzed retrospectively.Results 83.3%(20/24) of the patients obtained the disease during youth and it progressed slowly.79.2%(19/24) of the patients had positive family history.DM was a multisystem disease characterizing by myotonia,weakness and atrophy involved in multiple muscle groups,especially in distal limbs,neck and face.Extensors were more severe than flexors.Spontaneous myotonic discharges and myogenic damages were shown on electromyogram.Pathological examination of muscle biopsies showed increased number of central nuclei,nuclear chains and predominant atrophic typeⅠfibers in 8 cases,muscle fiber necrosis in 7 cases,fibrous structure disorder in 4 cases,sarcoplasmic masses in 3 cases,and serration of sarolemma in 2 cases.Conclusions The clinical characteristics of DM are weakness,atrophy and myotonia.Electromyogram and muscle biopsy are helpful in diagnosis of this disease.