title: Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures.
abstract: In this report we present three patients who had complaints primarily related to joints and flexibility. Two had no specific diagnosis and one was thought to have ankylosing spondylitis. Extensive evaluation revealed Emery-Dreifuss muscular dystrophy (EDMD) in all. EDMD is a muscular dystrophy where joint contractures and spinal limitation occur before any overt muscle weakness, and the syndrome may be combined with serious cardiac pathology. We wish to call the attention of professionals involved in rheumatology and physical medicine to the existence of this syndrome, which may only present with joint contractures and spinal limitation but which may end with fatal cardiac problems if not diagnosed in time.
authors.affiliation: Department of Physical Medicine and Rehabilitation, Cukurova University Medical Faculty, 01330, Adana, Turkey. rguzel@cu.edu.tr
authors.forename: Kamil
authors.initials: K
authors.lastname: Goncu
authors.forename: Rengin
authors.initials: R
authors.lastname: Guzel
authors.forename: Fusun
authors.initials: F
authors.lastname: Guler-Uysal
mesh_terms: D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D003286:Contracture / Q000150:complications / Q000175:diagnosis*; D018450:Disease Progression; D004551:Elbow Joint / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications / Q000175:diagnosis*; D010138:Pacemaker, Artificial; D011379:Prognosis; D016059:Range of Motion, Articular / Q000502:physiology; D018570:Risk Assessment; D012494:Sampling Studies; D012720:Severity of Illness Index; D013131:Spine / Q000503:physiopathology