An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy

Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding proteins that are defective for heterozygous and homozygous prevalent in certain regions. Advances knowledge their pathophysiology have shed light on these rare diseases, which were, until recently, difficult diagnose. This paper has described the process diagnosis autosomal recessive limb-girdle dystrophy Tunisia c.521del mutation gamma-sarcoglycanopathy ethnically specific other countries such as Italy. The epidemiology, clinical features, main socioeconomic needs well research progress discussed. We discuss an Italian case its psychosocial impact consideration compare this with Tunisian patients.