Work

Rare disease centers for periodic paralysis: China versus the United States and United Kingdom

Year: 2013

Type: article

Abstract: INTRODUCTION: We have developed a rare disease center in China. METHODS: In this study we analyzed how patients with periodic paralysis accessed centers in China vs. in the USA and UK. RESULTS: A total of 116 patients with periodic paralysis were evaluated in Beijing and Hangzhou (2003-2012). These patients traveled long distances for outpatient specialist care without an appointment or physician referral. In contrast, at the University of Rochester in the USA, >90% of patients were referred from physicians throughout the country by identifying physician expertise or by referrals from a patient advocacy group. In the UK, a single center, supported by the National Health Service, provides assessment/genetic testing for all UK patients. CONCLUSIONS: Rare disease centers in China require: (1) establishing a center for clinical characterization of the disease (e.g., periodic paralysis); (2) establishing a genetic diagnostic platform; (3) placing the center at a major city hospital; and (4) facilitating patient access through internet websites.

Source: Muscle & Nerve

DOI: 10.1002/mus.23970