“Improving Characterization of Neuromuscular Involvement in Adults with Cystinosis”.
Beside the consequences of renal failure, long-term prognosis of cystinosis seems to be related to neuromuscular complications. The main manifestations of neuromuscular involvement have been described in previous studies, emphasizing hand muscle weakness, respiratory insufficiency, and swallowing impairment. However, the long-term consequences and natural history of these symptoms remain an important issue. We propose to explore thoroughly the neuromuscular complications of cystinosis, focusing on skeletal and respiratory muscle weakness, in a well-characterized cohort of patients followed in a French reference center.” Read more about this important study.
