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Clinical myopathy in patients with nephropathic cystinosis

2019; Wiley; Volume: 61; Issue: 1 Linguagem: Inglês

10.1002/mus.26726

1097-4598

Reza Sadjadi, Stacey Sullivan, Natalie Grant, Susan E. Thomas, Maya Doyle, Colleen Hammond, Rachel Duong, Camille Corre, William David, Florian Eichler,

Sympathectomy and Hyperhidrosis Treatments

Abstract Background Nephropathic cystinosis is a lysosomal storage disorder. Patient survival years after renal transplantation has revealed systemic complications including distal myopathy and dysphagia. Methods We evaluated 20 adult patients with nephropathic cystinosis using patient‐reported and clinical outcome measures. Standard motor measures, video fluoroscopy swallow studies, and tests of respiratory function were performed. We also used Rasch analysis of an initial survey to design a 16‐item survey focused on upper and lower extremity function, which was completed by 31 additional patients. Results Distal myopathy and dysphagia were common in patients with nephropathic cystinosis. Muscle weakness ranges from mild involvement of intrinsic hand muscles to prominent distal greater than proximal weakness and contractures. Conclusions In addition to further characterization of underlying dysphagia and muscle weakness, we propose a new psychometrically devised, disease specific, functional outcome measures for distal myopathy in patients with nephropathic cystinosis.