New Diagnosis and Overwhelmed

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My dad had his follow up today with the als neurologist specialist. He did an emg. Afterwards he met with the doctor alone (due to covid no one else could go in). Now it seems the doctor thinks it could be Kennedy's disease. My dad didn't ask many questions unfortunately.

Any ideas what would randomly cause this change in opinion? He called 2 weeks ago after extensive testing saying he as als. I assumed they would have already tested for kennedy's disease? Any thoughts?
 
Same doctor? Or different one? About 10 percent of original ALS diagnoses are overturned often when they see the ALS specialist.

there are some clinical exam findings that suggest Kennedy Disease. Perhaps this doctor saw some of them.
 
Yes same doctor who saw him originally and called us for the diagnosis. He is an als specialist as well as other rare neurological conditions. Today my dad just had an emg with him but from what I gather kennedy's is diagnosed via a genetic test? What sort of clinical findings do you mean?
 
Kennedy is diagnosed via genetic testing but there are clinical features that can lead to suspicion that in turn leads to the genetic test. "These include sensory abnormalities, tremor of the upper extremities, and a quivering chin. A number of patients also have various endocrinologic abnormalities, such as diabetes, testicular atrophy, gynecomastia, oligospermia, and erectile dysfunction."
 
Is it not standard to do all related genetic tests to rule out other diseases?
 
Only if it is clinically indicated. Apparently it is indicated now for Kennedy disease and is happening.

some tests are standard but others happen because of the clinical presentation.
 
That makes sense thanks
 
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