Erosive Arthritis Associated with Limb-Girdle Muscular Dystrophy: Clinical Case and Literature Review
Eztevez Adrian*, Betancur Graciela, Avalo Alejandra, Papagno Maria, J., Etcheverry Maira, Velasco Patricia & Arguello Sabrina
Department of Rheumatology, Hospital El Cruce “Nestor Kirschner”, Argentina
Dr. Eztevez Adrian, Department of Rheumatology, Hospital El Cruce “Nestor Kirschner”, Argentina.
Keywords: Limb-Girdle Muscular Dystrophy; HNRPNDL Gene Mutation; Erosive Arthritis
Limb-Girdle Muscular Dystrophy (LGMD) are a group of hereditary muscular dystrophy that primarily affect skeletal muscle, leading to progressive muscular weakness. Among LGMD, autosomal dominant forms are relatively rare and represent about 10% of reported cases. Classification of LGMD is complex, based upon specific mutations. Currently, there are 6 reported families world- wide with LGMD with mutations in heterogeneous nuclear ribonucleoprotein D like (HNRPNDL) gene. In this report, we describe an Argentinian family with HNRPNDL mutation associated LGMDD3 with clinical differences compared to previous reports, presented with myalgia, muscle weakness and arthritis compromising carpus and metacarpophalangeal joints. This report is relevant because of the description of a new clinical manifestation in LGMD not previously reported: erosive arthritis. This might expand the understanding of this infrequent disease and reports a third affected family from Argentina. In our country, the study of muscular dystrophy is scarce and usually performed by disperse uncoordinated research teams. This report may shed new light to an unusual manifestation and may incentivize future research.
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