title: Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV.
abstract: We present a case of Ehlers-Danlos Syndrome (EDS) type IV with associated neuromuscular manifestations. The patient presented with nonspecific myopathic-type symptoms and later developed a spontaneous median mononeuropathy in the forearm. We believe that the case presented here complements current published neuromuscular manifestations occurring in EDS IV patients and illustrates the urgency of making the diagnosis, given the increased mortality associated with EDS IV.
authors: Department of Neurology, Medical College of Wisconsin, Milwaukee, WI 53226, USA. abarboi@mcw.edu
authors: Alexandru
authors: A
authors: Barboi
authors: Cedric
authors: C
authors: Dennis
authors: Michael
authors: M
authors: Timins
authors: Wendy
authors: W
authors: Peltier
authors: Craig M
authors: CM
authors: Klotz
authors: Safwan
authors: S
authors: Jaradeh
mesh_terms: D000328:Adult; D024061:Collagen Type III / Q000235:genetics; D003161:Compartment Syndromes / Q000150:complications; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D004576:Electromyography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications; D009468:Neuromuscular Diseases / Q000209:etiology* / Q000503:physiopathology; D017354:Point Mutation
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III