The primary objective of the study is to evaluate the change in motor function of patients with cystinosis. The secondary objectives of the study: * assessment of the respiratory function; * assessment of the muscle function; * assessment of swallowing disorders; * assessment radiologically of the muscular efficiency; * assessment of lean mass / fat mass ratio; * assessment of sleeping disorders; * annual assessment of evolution of above functions. All patients will be examined by experienced neuromuscular specialist (Pr Pascal Laforêt) and pulmonologist specialized in neuromuscular disorders (Pr Hélène Prigent). All evaluations will be performed in Raymond-Poincaré hospital (Teaching hospital of Assistance Publique - Hopitaux de Paris (APHP) and University of Paris-Saclay) neuromuscular center, coordinated by Pr Pascal Laforêt.
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Change in motor function
Timeframe: 12 months