Quiz Form
Quiz Form
Quiz Listing
Edit Question
1
2
3
Question Date
*
Please select a valid date.
Question
*
An 8-year-old girl presents with jerky movements of the hands and arms (noted since 3 years of age). She was initially diagnosed with essential tremor based on a family history of perceived tremor in her mother. Now that the patient is in second grade, the jerks have impaired her ability to write. On examination, she is noted to have resting and action-induced axial-predominant myoclonic jerks. While holding a pencil to write, she displays an abnormal hand posture and exacerbation of the myoclonus in the neck<br><br>Which of the following is the most likely diagnosis?
Explanation
*
This child is manifesting axial-predominant segmental myoclonus as well as dystonia in the hand induced by writing (with exacerbation of the myoclonus in the cervical region). This is consistent with a diagnosis of myoclonus-dystonia, an autosomal dominant disorder. The condition is caused by a mutation in the epsilon-sarcoglycan gene on chromosome 7. Opsoclonus-myoclonus would manifest with abnormal saccadic eye movements as well as myoclonus. Orthostatic myoclonus occurs in adults and is associated with myoclonus in the upright posture. Juvenile myoclonic epilepsy is not associated with dystonia.
Explanation Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Reference
*
Espay AJ, Chen R. Myoclonus. Continuum (Minneap Minn). 2013 Oct19(5 Movement Disorders)1264-86. doi 10.121201.CON.0000436156.54532.1a. PMID 24092290.
Reference Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Question Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Video Upload:
(MP4 / Upto 10 MB only)
Option 1
*
Is Correct (Option 1):
Orthostatic myoclonus
Option 1 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Option 2
*
Is Correct (Option 2):
Juvenile myoclonic epilepsy
Option 2 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Option 3
*
Is Correct (Option 3):
Myoclonus-dystonia
Option 3 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
Option 4
*
Is Correct (Option 4):
Opsoclonus-myoclonus
Option 4 Image Upload:
(JPG / JPEG / PNG Upto 2 MB only)
