Department of Pathology, University of Oklahoma Health Sciences Center

 

April 2004, Case 404-1. Quiz set! Click here to see.

A 52 year-old man with muscle weakness

Clinical information The patient was a 52 year-old right handed male who presented with about 10-month history of weakness of the arm and legs, and occasional diplopia. The patient reported difficult in getting up from a squatting position. He also had difficulty in overhead movements such as combing his hair and painting. The patient described problem in gripping but not relaxation. He was unable to walk more than 150 feet before he has to stop because of leg wobbling. The patient also had constant numbness on both of his forearms and sometime find it difficult to tell where his feet are. His father had no history of muscle diseases. His mother had muscular dystrophy and also requires pacemaker. Multiple member of the family also have history of muscular symptoms similar to this patient.  His creatine kinase (CK) was 358 units.

    On physical examination, the patient had bilateral vertical and horizontal diplopia on sustained upward gaze. There was no diplopia on right or left gaze and no evidence of fatiguable ptosis. There was also hyperesthesia in the lower extremities. The patient walked with wide based gait with leg eversion and almost bow legged gait. He walked in stooped forward posture. There was no change in muscle strength or increased joint reflex. There was fatiguability of the full strength in bilateral upper and lower extremities. He had no problem on relaxation of muscle.

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Abbreviations:

HE

 Hematoxylin-eosin stain.

COX

 Cytochrome C oxidase reaction.

MGT

 Modified Gomori's trichrome stain.

ATPase

 ATPase at pH 9.4

NADH-TR

 NADH-tetrazolium reductase reaction.

Phos

 Phosphorylase

SDH

 Succinate dehydrogenase reaction.

EM

 Electron microscopy

What is your diagnosisDiscussion

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