Female child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case report

Severe Childhood Autosomal Recessive Muscular Dystrophy (SCARMD) is a variant of sarcoglycanopathy resulting from mutation in the sarcoglycan genes. SCARMD is a rare form of muscular dystrophy characterised by severe DMD like phenotype occurring at early ages and affecting boys as well as girls. Here we are reporting a case of 7year old female child born to 3rd degree consanguineous parents presented with proximal muscle weakness beginning in both lower limbs since4 years of age. On thorough clinical examination and laboratory evaluation child turned out to be SCARMD. Hence this case report emphasizes that suspicion of SCARMD has to be made when female children presented with features of DMD, and genetic counselling and prenatal diagnosis should be done to reduce the burden of the disease in the community.

The use of sarcoglycan antibodies in diagnostic tests for sarcoglycanopathies / 中华神经科杂志

Objective To study the characteristics of sarcoglycanopathies and their diagnostic methods.Methods On basis of dystrophin immunostaining,the muscle specimens of 25 LGMD with normal dystrophin were investigated using all four sarcoglycan (?,?,?,? sarcoglycan) antibodies by immunohistochemistry and Western blotting. Results 5 specimens showed a deficiency: one case in ? SG,two in ? SG,one in three SG,and one in all four SG.Conclusion 5 patients were diagnosed as "sarcoglycanopathies". As it is difficult to distinguish the various types of LGMD based on clinical features,the immunohistochemistry and Western blotting of all four sarcoglycan antibodies may serve as an important diagnostic tool for sarcoglycanopathies.