Alpha Sarcoglycanopathy in a Turkish Family

Limb girdle muscular dystrophy type 2D (LGMD-2D) is an autosomal recessive muscular disease caused by genetic defects in sarcolemmal alpha sarcoglycan (α-SGC) glycoprotein. A 5-year-old girl applied to the pediatric neurology clinic with the complaint of weakness in lower limbs and fatigue. Her two brothers were clinically diagnosed as Duchenne muscular dystrophy without biopsy and genetic testing. Her neurological examination was normal. Her serum creatin kinase level was 13630 IU, EMG presented myopathic changes. Muscle biopsy showed dystrophic changes such as abnormalities in myofiber shape and size, interstitial fibrosis, regeneration and degeneration. Beta and delta sarcoglycans were diffusely present but gamma- and alfa-sarcoglycans could not be demonstrated in the repetative sarcoglycan staining. Also dystrophin stained positive. A homozygous R24H (c.G101A) mutation in alpha sarcoglycan gene, which is compatible with LGMD Type 2D, was demonstrated. Her misdiagnosed brothers were carried out the same mutation. Their female cousin presented with similar findings and genetic test reveal same mutation too. In this report we impressed that; muscular biopsy and molecular analysis should be performed on a female patient with hyperckemia and muscle weakness.