title: Myotonic dystrophy presenting as new-onset hand weakness and recurrent pneumonia in a patient with paraplegia: a case report.
abstract: We describe a previously independent T11 paraplegic patient who had delayed-onset hand weakness and recurrent pneumonia caused by myotonic dystrophy. A man in his late thirties suffered a thoracic spinal cord injury (SCI) from a gunshot wound at the age of 17 years, with resultant T11 American Spinal Injury Association class A paraplegia. He lived independently until the age of 36 years when he was hospitalized multiple times for pneumonia. During a rehabilitation stay after one of the acute hospitalizations, the patient's hand weakness and diffuse muscular atrophy were noted. Electrodiagnostic testing was performed, which showed myotonic discharges. Genetic testing was consistent with myotonic dystrophy. This case shows the importance of considering causes of weakness that affect the population as a whole when evaluating a patient with SCI who presents with delayed-onset weakness.
authors.affiliation: Department of Physical Medicine and Rehabilitation, Northwestern University and the Rehabilitation Institute of Chicago, IL, USA. ryantcarver@yahoo.com
authors.forename: Ryan T
authors.initials: RT
authors.lastname: Carver
authors.forename: L Casey
authors.initials: LC
authors.lastname: Boysel
authors.forename: Christina M
authors.initials: CM
authors.lastname: Marciniak
authors.forename: Steven B
authors.initials: SB
authors.lastname: Nussbaum
mesh_terms: D000200:Action Potentials; D000328:Adult; D017668:Age of Onset; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D003937:Diagnosis, Differential; D004568:Electrodiagnosis; D004576:Electromyography; D017809:Fatal Outcome; D005820:Genetic Testing; D006225:Hand / Q000503:physiopathology; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000209:etiology* / Q000503:physiopathology; D009223:Myotonic Dystrophy / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D010264:Paraplegia / Q000150:complications*; D011014:Pneumonia / Q000209:etiology*; D012008:Recurrence; D013119:Spinal Cord Injuries / Q000150:complications; D013904:Thoracic Vertebrae / Q000293:injuries; D013997:Time Factors; D014948:Wounds, Gunshot / Q000150:complications