Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis.

Background: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by kidney and extra-renal complications due to the accumulation of cystine crystals in various tissues and organs. Herein, we describe the early neuromuscular complications in a cohort of pediatric nephropathic cystinosis patients.

Methods: We prospectively evaluated the clinical, biochemical, and neurophysiological data of 15 cystinosis patients.