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School of Medicine >
Department of Neurology >
Medical Student Cases and Questions >
The Balding Woman
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A 36 year old woman presented to her family doctor because
of premature balding. Her physician noted that the patient was having
trouble opening doors and jars because her hand got stuck when she gave
a maximum effort. It had never bothered her because her father had the
same problem and had told her that it ran in the family. The physician
referred the patient to a neurologist for evaluation. On exam the patient
was noted to have frontal balding and a "hatchet facies" because
of marked narrowing of her mandible and lower maxilla. Her neurological
exam was within normal limits except for moderate distal weakness in all
four extremities with some muscle wasting in her forearms, hands, forelegs
and feet. Her reflexes were 2+ and symmetrical and her sensory examination
was normal.
Questions:
- What is the anatomy (muscle, nerve, spinal cord, brainstem or cerebral hemispheres)?
- Define myotonia? How do you test for it on physical examination.?
- The neurologist contacted the rest of the family and found that
roughly 50% had the hatchet facies, frontal balding and trouble letting
go of objects. What is the pattern of inheritance? What is the genetic
defect underlying this patients problem?
- What is the diagnostic test and what are the results in this condition?
- What are the other organ systems commonly involved with this disease?
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