Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV.
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.
Barboi
Alexandru
A
Department of Neurology, Medical College of Wisconsin, Milwaukee, WI 53226, USA. abarboi@mcw.edu
Dennis
Cedric
C
Timins
Michael
M
Peltier
Wendy
W
Klotz
Craig M
CM
Jaradeh
Safwan
S
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
C439971:COL3A1 protein, human; D024061:Collagen Type III