Kennedy Disease

2000 Kennedy's Disease Association case in which a 50 year old man describes:

I had "high" testicles laying in the abdominal cavity – returned to normal when I was 12 (supported by hormonal therapy and beginning puberty). 

In his early 40s:

I got a sudden weakness in my legs, went over my ankle and sat down directly on my twisted foot. I could never Jog again without problems and I gave it up.

All these events were short muscle relaxation (- as well as occasional spasms in the legs, fingers and the tongue and tremor in the hands), which I didn’t take seriously and laid the blame on overwork and lack of fitness.

  • Gynecomastia in a mild form
  • Muscle weakness in legs and arms
  • Strongly increased CPK-values
  • Little imbalance.

Consequently I was transferred to a neurologist with the suspicion of having a nerve or muscle disease.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even without the CPK results or other laboratory testing, Kennedy disease is the overwhelming favorite for the diagnosis.

There are more Kennedy disease personal stories on the Kennedy's Disease Association Web site.

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If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.