The Analysis Of Clinical And Muscle Pthlogcial Characteristcics Of Limb-girdle Mhscular Dystrophy

Background:LGMD is heterogenous group of muscle diseases, clinically affecting shoulder and pelvic girdle muscles with varying degrees of weakness or atrophy as the main features of autosomal dominant or recessive genetic myopathy, accounting for 25%～45% of muscular dystrophy. In 1954, first proposed by the Walton and Nattrass. In ninteenths years of the 20th century, research into the molecular biology of the disease stage. Beckmalm set LGMD mutation site on chromosome 15 for the first time in 1991. defective proteins and associated gene mutation have been located and isolated afterward.1995 Bushby et al, had used term LGMD1 for autosomal dominant LGMD, LGMD2 for autosomal recessive LGMD. Currently there are 21 species have been reported. At present, in China the research reports of the disease are relatively rare, in recent years in Hebei, Shandong, Shanghai and other regions has been reported to LGMD 2B, LGMD 2A type more common, diagnosed mainly by immunohistochemistry and Western blot, other types of LGMD are still lack of relevant research.Objectives:24 cases of LGMD patients studied clinically and pathologically, provide a reference for clinical diagnosis.Materials and Methods:In this study, data from June 2007 to September 2010, Department of Neurology, First Hospital of Jilin University, in and out-patients, a total of 30 cases, LGMD group of 24 cases, PM and DMD group of 6 cases. LGMD patients collected the clinical data:gender, age, Symptoms, signs, serum enzyme level, electrophysiological studies, muscle pathology routine staining and immunohistochemistry, and summarized the general index of all patients. LGMD were compared with the PM and the DMD patients at muscle pathology, then analysis the clinical and pathological characteristics of LGMD patients.Results:LGMD disease in this group no significant gender differences. Age of onset range from 20 to 40 years.21(87.5%) are sporadic cases. The first symptom is lower extremity muscle weakness and atrophy in 12 patients, followed by proximal limb weakness and atrophy. LGMD patients with slow disease progression, most patients live without aid. EMG studies were of myogenic damage. Muscle biopsy histochemical staining of muscle fiber necrosis, regeneration, muscle fiber atrophy, hypertrophy, internal nuclei, increased perivascular infiltration of inflammatory cells, muscle fiber splitting and other obvious difference compared with control group. All 24 patients with LGMD Dystrophin immunohistochemistry with no abnormalities. immunohistochemical staining of anti Dysferlin membrane staining in 21 cases missing, of which 10 cases were completely missing,11 were partially missing.3 cases of DMD patients complete absence of Dystrophin, between them 2 patients associated with decreased expression of sarcoglycan-a; 3 PM muscle immunohistochemistry were normal.Conclusion:1. LGMD patients onset age were 20 to 39 years old. The first symptom of patients with lower limb weakness and atrophy was the most common presentation, and disease progression was relatively slow.2. Value of serum CK was largely fluctuating, and not directly proportionate with the severity of the disease.3. The most common sign was Gower sign, followed by scapular winging and duck walking step. Family history of LGMD patients in this group accounted for only 12.5%, remaining were sporadic patients.4. Muscle biopsy histochemical staining of LGMD patients had a similar picture in patients with DMD and PM.5. PM&LGMD 2B had similar clinical picture, differentiation was done only by lack of dysferlin on immunohistochemical slides in the latter. Immunohistochemical staining had significantly improved the diagnostic yield of LGMD.