Sarcoglycanopathy - a rare case report and literature review

Abstract

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance designated as á, â, ã, or ä sarcoglycanopath.; which belong to the group of limb girdle muscular dystrophies and are caused by mutations in any of the four sarcoglycan genes: alpha (LGMD 2D), beta (LGMD 2E), gamma (LGMD 2C) and delta (LGMD 2F). The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from Bangladesh are scarce. We report a rare case of primary sarcoglycanopathy (SGP) which emphasizes the evolving concept of “dystrophinopathy to sarco-glycanopathy”. and describe literature pertaining to this rare entity DOI: http://dx.doi.org/10.3329/jdmc.v22i2.21551 J Dhaka Medical College, Vol. 22, No.2, October, 2013, Page 232-235

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

“…Cardiac function is usually better preserved in SCARMD than in DMD. 3,9 The main similarities and differences between DMD and SCARMD are summarized in Table 1. Immunohistochemical analysis is the most reliable method of diagnosis.…”

“…Consecutively, a definitive diagnosis can only be achieved through biochemical and molecular analysis. 3 SCARMDs are severe form of sarcoglycanopathies. With advances in genetics and immunocytochemistry, most cases of SCARMD are now known to result from mutations of alpha and gamma sarcoglycan gene.…”

“…In 1983, Ben Hamida described signs, symptoms and muscle pathology findings of SCARMD.5 In contrast to dystrophinopathies, sarcoglycanoparhies are characterized by absence of mental retardation and overt cardiac involvement. 3…”