Monday, October 1, 2018

Symptoms of Kennedy's Disease (SBMA)

Any time I list the potential symptoms of Kennedy’s Disease, aka Spinal Bulbar Muscular Atrophy (SBMA), there is a tendency for someone to comment, “I have that. Do you think it’s Kennedy’s Disease?”

My answer is always the same. “I don’t know. You need to see your primary care doctor and discuss your symptoms with her/him.”

When my symptoms started, there was no DNA test for Kennedy’s Disease (SBMA). Most doctors and many neurologists did not know about SBMA. Neurologists put you through a series of tests, some not very pleasant, to help determine the cause of the symptoms. Most often, it was an educated guess based upon available evidence. In my case, I was diagnosed with ALS.

Several years later, another doctor diagnosed it as SBMA and sent me to see Dr. Fischbeck for a second opinion. I still remember walking into Dr. Fischbeck’s office that morning. He saw my gate, nodded his head, and said, “You have the walk.” He performed a DNA test and confirmed Kennedy’s Disease.

Today, because of the DNA test, a doctor can draw a little blood and send it off to a lab. Within a few weeks you will have an answer as to if you have Kennedy’s Disease. If not, you will still have to go through more testing, but at least SBMA is ruled out.

In regards to the list of symptoms below, those of us living with Kennedy’s Disease normally do not have all of them. We will have several and some might not appear until later in the progression. The most common early symptoms are severe cramping, hand tremors, unexplained fasciculations, and gynecomastia.

Please note there is a wealth of information available on the Kennedy’s Disease Association website (


(I apologize for the formatting problem below)

Bulbar Signs
The Bulbar muscles are those supplied by the motor nerves coming off the brain stem. They control breathing, swallowing, talking and other functions of the throat. Bulbar signs are problems with these functions.
Trouble swallowing. (One of the Bulbar signs.)
Intention Tremor
Hand tremors when trying to do something.
Normal Babinski
Normal plantar response, ie., when the bottom of the foot is scraped, the toes bend down. An abnormal response would be an upward bending of the toes indicating a problem in the brain itself.
Lower Motor Neuropathy
The lower motor nerves are those that run from the spinal cord to the muscles that they stimulate to move. Loss of that nerve leads to weakness and wasting of the muscle.
Primary Sensory  Neuropathy
Numbness over certain areas. Loss of sensation.
Decreased or Absent Deep Tendon Reflexes
When a doctor taps the knee with his hammer there is no response.

Twitching of small muscles without purposeful movement. These can be seen through the skin.
Large muscle spasms.
Postural Tremor
Shaky muscles with certain positions.
Muscular Atrophy
Wasting and shrinkage of muscles that occurs when the lower motor nerve does not stimulate the muscle adequately.
Hypertrophied Calves
Calf muscles that become thicker because of cramps.

Enlarged breasts.

Androgen Deficiency
Loss of masculinizing effect (qualities that are perceived as masculine).
Estrogen Excess
More of an apparent estrogen effect because of the lost of masulinizing effect.

Erectile dysfunction.
Reduced Fertility
Low sperm count.
Testicular Atrophy
Testicles become smaller and less functional.
 Miscellaneous Characteristics:

Late Apparent Onset
Symptoms could become apparent in 20's or 30's, but might not appear until the 60's or 70's.
Slow Progression
Near-normal lifespan.
Asymmetry of Clinical Signs
Muscles of one side may be more affected than the same muscles on the other side.

Elevated Serum Creatine Kinase
Elevation of CPK enzyme in the blood test.  Can be confused with the enzyme released during a heart attack.


  1. I am pretty sad. I've been dealing with an unknown nervous system issue for 7 years. I was always diagnosed with benign fasciculation syndrome.

    Earlier tonight I stumbled on Kennedy's disease. I am 100% certain I have Kennedy's disease. I have all the symptoms, the gynomastacia, testicular atrophy, low testosterone levels, high glucose and insulin, metobolic syndrome, and elevated liver enzymes now. My aunt has an unknown genetic disease that was falsly believed to be SMA3, but she doesn't have the financial means to get genetically tested. I'm 29 years old and just had a daughter. This is very sad and I will talk to the Dr on Friday. Is there any realistic hope that we find something in the very near future for this disease?

    I'm very sad right now and hope this progresses very slowly. I know I have to get the genetic test, but for the first time in 7 years I finally have clarity to everything I have been dealing with.

    1. Realize you are not alone. There is a Kennedy's Disease Patient Group hosted on Facebook if you are so inclined.

      There are many frustrations with this disease. The group really helped me deal with them.

      Good luck, and welcome to the disease.

      Jay C. "Jazzy_J" Theriot

      I can be reached through my blog at if you wish to talk.


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