Clinical and genetic features of sarcoglycanopathies: results of a Europe-wide collaboration

A European network is helping to establish the clinical and genetic features of sarcoglycanopathies, according to data presented at WMS 2020.

“Sarcoglycanopathies are extremely rare disorders,” said Dr Jorge Alonso-Pérez of the Hospital de la Santa Creu i Sant Pau in Barcelona, Spain. As a group, they are one of the most frequent causes of limb-girdle muscular dystrophy (LGMD).

Mutations in the sarcoglycan genes SGCA, SGCB, SGCG, and SGCD are known to cause LGMDR3, LGMDR4, LGMDR5, and LGMDR6, respectively. “Development of international networks can result in an extended collection of clinical and genetic data that eventually will improve knowledge of this disease.”