The Clinic, Muscle Pathology And Causative Gene Of Reducing Body Myopathy

Objective:In this study, a family with limb weakness as the prominent sign of reducing body myopathy were analysed. We established PCR-SSCP method to identify the mutation of FHL1 gene in the family members, thus this study which will provide a base of carrying out genetic counseling of reducing body myopathy.Materials and Methods:According to the patient who was diagnosed as reducing body myopathy by The First Hospital of Jilin University, we found three generations of the family. The family map was drawn. All clinical data collections and gene mutation test were taken from three female family members. Routine blood tests,electromyography,muscle biopsy and the FHL1 gene mutation test with poly merase chain reaction-single strand conformation polymorphism method were carried out on the proband. The relationship between incidence and FHL1 gene was observed. A comprehensive analysis of the clinical characteristics and genetics features of reducing body mypoathy were carried out.Result:A total of three generations of the family, having eight family members which five are female. Only one female family member is onset. Other family members have not got the disease. The proband were characterized by progressive limb weakness since she was 11 years old, slow progression, no affect longevity, but to varying degrees by the impact of daily life. She saw the doctors when she was 41 years old. On physical examination, she has mild neck flexion weakness, winging scapula, triceps and biceps atrophy, pelvic girdle muscles of the prohand develops weakness. Deep tendon reflexes are diminished. Gower sign is positive. Routine blood tests of the proband were normal. And the result of proband's electromyography presented myogenic damage. Muscle pathology was characterized by the presence of reducing body, according with the pathology performance of reducing body myopathy. The result of FHL1 gene mutation test was negative. The proband who was given neurotrophy durgs and appropriate sports did not felt severely fatigue symptoms improved. In addition to poorer running and jumping than other peers, the daughter of proband has not found other symptoms or signs, and she is seen as clinically suspected patients, who need other follow-up observation. The physical examination and FHL1 gene mutation test of other members in the family was negative. Conclusion:The family has one victim, one clinically suspected patient, and other family members did not involved, the family needs other follow-up observation. The proband had limb weakness as the predominant syndrome, which belong to late onset forms. Muscle specimen was fit to the pathology performance of reducing body myopathy. FHL1 gene is not the causative gene of this family. There may be other unknown causative gene of reducing body myopathy, thus more research need to achieve such as muscle biopsy pathologic examination and genetic testing.