Clinical aspects of patients with sarcoglycanopathies under steroids therapy / Aspectos clínicos de pacientes com sarcoglicanopatias sob efeito de corticoterapia

Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available. Objective To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. Method Patient files were retrospectively analyzed for steroid use. Results Stabilization of muscle strength was noted in one patient, a slight improvement in two, and a slight worsening in three. In addition, variable responses of forced vital capacity and cardiac function were observed. Conclusions No overt clinical improvement was observed in patients with sarcoglycanopathies under steroid therapy. Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies. .

Pacientes com sarcoglicanopatias, que compreendem quatro subtipos de distrofias musculares de cinturas autossômicas recessivas, geralmente apresentam fraqueza progressiva, levando à perda precoce da deambulação e morte prematura, e não há tratamento eficaz disponível até o momento. Objetivo Descrever os aspectos clínicos e a evolução de seis crianças com sarcoglicanopatias tratados com corticosteróides por pelo menos um ano. Método Prontuários dos pacientes foram analisados retrospectivamente. Resultados Estabilização da força muscular foi observada em um paciente, uma ligeira melhora em dois, e um ligeiro agravamento em três. Além disso, foram observadas respostas variáveis de capacidade vital forçada e da função cardíaca. Conclusões Não houve melhora clínica evidente em pacientes com sarcoglicanopatias sob terapia com corticosteróides. Estudos prospectivos controlados incluindo maior número de pacientes são necessários para determinar os efeitos dos corticosteróides para sarcoglicanopatias. .

Value of immunofluorescent technique for clinical diagnosing muscular dystrophy / 临床神经病学杂志

Objective To explore the value of immunofluorescent technique for clinical diagnosing Duchenne muscular dystrophy(DMD),Becker muscular dystrophy(BMD) and Limb-girdle muscular dystrophy(LGMD).Methods Immunofluorescent technique was applied,and the expressions of Dys1,Dys2,Dys3 monoclonal antibodies and ?-,?-,?-sarcoglycan(SG) polyclonal antibodies against dystrophin,?-SG,?-SG,?-SG in musculomembranes of frozen section specimens from 25 patients(10 cases of DMD,4 cases of BMD and 11 cases of LGMD) were detected.Results 10 DMD patients had negative staining of dystrophin,and 4 BMD patients had discontinuous or a patchy positive staining pattern.All LGMD patients had positive dystrophin staining.There was one patient presented negative staining of ?-SG and ?-SG,respectively.Conclusions Detecting of dystrophin by immunofluorescent technique is special and helpful in diagnosing and classifying DMD/BMD.At present,SG may not be used in diagnosing the LGMD patients.