Clinical myopathy in patients with nephropathic cystinosis
| Autor: | Susan E. Thomas, Florian Eichler, Natalie Grant, Maya Doyle, Camille Corre, Rachel Duong, Reza Sadjadi, Colleen Hammond, Stacey Sullivan, William S. David |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male Pediatrics medicine.medical_specialty Psychometrics Physiology Cystinosis 030105 genetics & heredity 03 medical and health sciences Cellular and Molecular Neuroscience Young Adult 0302 clinical medicine Nephropathic Cystinosis Physiology (medical) medicine Humans Respiratory function In patient Myopathy Muscle Skeletal Muscle contracture Neurologic Examination Muscle Weakness business.industry Muscle weakness Extremities Middle Aged Hand Dysphagia Respiratory Function Tests Transplantation Distal Myopathies Treatment Outcome Female Neurology (clinical) Self Report medicine.symptom business Deglutition Disorders 030217 neurology & neurosurgery |
| Zdroj: | MusclenerveREFERENCES. 61(1) |
| ISSN: | 1097-4598 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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