Objective: We report the case of a 21 year old male with Ehlers-Danlos syndrome (EDS) and Attention Deficit Hyperactivity Disorder (ADHD) who presented with joint discomfort and was found to meet clinical diagnostic criteria for Tourette’s syndrome (TS).  We present this case to report an atypical pre-monitory urge which was attributed by the patient to an underlying mixed connective tissue disorder but was related to a co-morbid tic disorder.     

Background: EDS includes a group of heritable connective tissue disorders mainly characterized by joint hypermobility.  There are many neurologic complications of EDS including headache, muscle weakness, paresthesia, intracranial aneurysms, subarachnoid hemorrhage, spontaneous arterial dissection, cavernous sinus fistula, seizures, and neuropathy. 

Methods: A 21 year-old right handed male with EDS and ADHD presented to the Movement Disorders Center at Rush Medical Center in Chicago with joint discomfort. He was not aware of any tics, but described a painful sensation in his hips, right shoulder, and neck which was followed by movement in these joints. He could briefly suppress the movements and described a sense of relief with their performance. He had a history of throat clearing when he was previously taking lisdexamphetamine for ADHD and his brother has motor tics. His neurologic exam was notable for multiple tics including eye rolling, alternating eye blinking, mouth puckering, mouth twitching, right shoulder jerking, and right hip jerking (see attached video).

Results: Basic lab-work including complete blood count, complete metabolic profile, electrolytes, thyroid, and parathyroid studies was normal. MRI was obtained of both hips and both shoulders. These tests were notable only for mild tendinosis of the supraspinatus and infraspinatus muscles in the left shoulder.

Conclusions: This patient showed evidence of motor tics on physical exam and provided a history of prior vocal tics when treated for ADHD. He thus met the diagnostic criteria for TS. Though the movements did not bother him, he was started on guanfacine given his increased risk for joint dislocation. This case describes an atypical pre-monitory urge of joint pain which preceded motor tics, and which was attributed a known diagnosis of EDS. We present this case to increase awareness of abnormal urges that can precede tics and which patients may attribute to a seemingly un-related co-morbid disease. 

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MDS Abstracts - https://www.mdsabstracts.org/abstract/joint-pain-as-premonitory-urge-in-patient-with-ehlers-danlos-syndrome-and-tourettes-syndrome/