CLINICAL SPECTRUM OF THE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E (LGMD2E)

Autosomal recessive muscular dystrophies are commonly seen. Limb-girdle muscular dystrophy 2E (LGMD2E) is caused by a mutation in the beta sarcoglycan gene. Proximal muscle weakness in the shoulder and pelvic girdle muscles is the main clinical feature. Facial muscle weakness is mild or absent. To contribute to the literature, we collect and present the demographic information and clinical data of patients diagnosed with LGMD2E in Turkey. We evaluated nine cases previously diagnosed with LGMD2E. Four patients were female, five were male, and three siblings were included. At the time of diagnosis, patients had difficulty walking and climbing stairs. All patients have consanguineous parents. 3 of 9 patients had muscle hypertrophy, while four patients had muscle atrophy. Facial myopathy was present in 4 patients. 7 patients had generalized muscle weakness. Two individuals had wing scapula, and six had joint contractures, especially knee and ankle joints. Three cases were ambulatory, but Gowers sign was prolonged. Mutations detected in patients were highly specific in our cohort: c.686A>T, c.1A>T and c.610T>C. This denotes a founder effect. LGMD2E can present a DMD-like course with onset in the first decade of life. There may develop cardiorespiratory involvement. In LGMD2E, gene therapy efforts are ongoing for the past few years. This is why our cohort is actually a natural history study.
Keywords: Limb girdle muscular dystrophy, natural history