Abstract

Although facioscapulohumeral dystrophy (FSHD) is associated with a deletion in a sequence of 3.3 kb repetitive elements on the long arm of chromosome 4 (4q35), no gene has been identified in this region and the precise molecular pathogenesis of the disorder remains uncertain.1 The condition is untreatable, and few therapeutic trials have been conducted.2,3 Recent anecdotal reports and patient testimonials have suggested that calcium channel blockers might prove beneficial in patients with FSHD with the rationale that calcium dysregulation may result in cell death in this disease.4 We conducted an open label pilot trial of the calcium ion influx inhibitor (slow channel blocker) diltiazem hydrochloride in patients with FSHD. ### Methods. Twenty ambulatory adult patients with FSHD, ages 21 to 60, were enrolled. All patients had the typical clinical picture and chromosome 4q35 short fragment …

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.