Limb-Girdle Muscular Dystrophy Type 2C: Case Report

Abstract

Limb-Girdle muscular dystrophy (LGMD) is a group of inherited disorders that lead to muscle weakness and skeletal muscle wasting involving the muscles around the hips and shoulders. This can cause a gait disturbance, difficulty running or even a complete loss of the ability to walk. The appearance of the disorder, the course and the muscles affected are variable between the different subtypes of the disease. Typically, patients with type 2C Limb-Girdle dystrophy (LGMD2C) start having symptoms early in infancy and lose their ability to walk around the age of 12. Others have less symptomatology and have late expression in adulthood. This disorder can affect the heart muscle in some patients. They can also have osteoarticular and vertebral deformations. The prognosis depends on the muscles often affected by respiratory failure.LGMD2C is caused by a pathogenic mutation in the SGCG gene. We report the case of a 13-year-old child, with a notion of femoral fracture at the age of 5 years and first degree consanguinity in the parents, no similar case in the family, and who presents since 3 years difficulty walking Clinical examination: walking, positive sign of Gowers, scapula alta, enlarged calves. On the biological level: CPK 6380, LDH 482, PAL 219, ASAT 68, ALAT 103. The electromyogram shows a slowing of the motor conduction speed of the external popliteal sciatic nerve with a slight loss of amplitude. Muscle biopsy objective a discreet dystrophic formula with a total absence of expression of gamma sarcoglycans and proteins of the muscle membrane. Gamma glycanopathy is genetically confirmed by the mutation of the δ-SG gene. A cardiac ultrasound was without abnormality.