The Balding Woman

 

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:

  1. What is the anatomy (muscle, nerve, spinal cord, brainstem or cerebral hemispheres)?

  2. Define myotonia? How do you test for it on physical examination.?

  3. 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?

  4. What is the diagnostic test and what are the results in this condition?

  5. What are the other organ systems commonly involved with this disease?
Last updated by Webmaster on August 18, 2009

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