Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

Distal myopathies are a heterogeneous group of rare genetic disorders that are characterised by progressive, distal skeletal muscle wasting and weakness. They are inherited in both an autosomal dominant and an autosomal recessive manner [1]. Variants in the ADSSL1 gene, encoding for adenylosuccinate synthase, are a very rare cause of adult onset distal myopathy with only nine individuals from six families of Korean origin reported [2, 3]. All affected individuals presented with adult onset, distal myopathy and facial weakness (myopathy, distal 5 (MPD5), MIM# 617030) [2, 3].

Source: Neuromuscular Disorders - February 13, 2020 Category: Neurology Authors: Magdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, Ana T öpf, Roula Ghaoui, Samantha Bryen, Jennifer Duff, Eleina England, Sandra T. Cooper, Daniel G. MacArthur, Volker Straub Tags: Case report Source Type: research