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 (http://www.kennedysdisease.org/index.php/about-kennedys-disease/what-is-kennedys-disease).

SYMPTOMS (I apologize for the formatting problem below)

Neurological:
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.
Dysphagia	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.
Muscular:
Fasciculations	Twitching of small muscles without purposeful movement. These can be seen through the skin.
Cramps	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.
Thoracic:
Gynecomastia	Enlarged breasts.
Endrocrine
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.
Genito-Urinary:
Impotence	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.
Laboratory:
Elevated Serum Creatine Kinase	Elevation of CPK enzyme in the blood test.  Can be confused with the enzyme released during a heart attack.

Follow up on an Experiment

My September 17 article, Unexpected Benefit, explained the results of my experiment of daily foot massages.

“For several years, the bottoms of my feet and toes have been numb or tingly. I tried different techniques to stimulate the nerves, but nothing seemed to work. In early August, the feet were particularly bad. One evening, I used my hands to massage my feet. The feet were more sensitive than I thought they would be when I performed a deep tissue massage. At times, it was slightly painful. Yet, they felt better afterward.”

Modern Reflexology reported the follows signs and symptoms of peripheral neuropathy:

• Gradual onset of numbness and prickling or tingling in your feet or hands, which can even spread to the entire length of your legs and feet.

• Sharp shooting, jabbing, throbbing, freezing or burning pain

• Unable to control movements.

• Touch sensitivity that sometimes reaches extreme levels.

• Weakness of muscles or paralysis if motor nerves are affected.

It has been five months since I started the daily massages. It only takes 5-10 minutes. My feet no longer tingle and are not numb. I can feel all my toes and they have better movement. When I massage the feet, it is no longer painful. It is actually enjoyable. I also notice that my feet do not feel as cold. That would make sense since the massage should be stimulating the circulation. It is nice to be able to feel the bottom of my feet and toes. It makes standing easier.

I still experience an occasional numbness in my right pinky finger, but it is not constant. However, my finger strength has improved with the daily routine.

Has anyone else tried this? What is your experience and results?

Photo: Modernreflexology.com

Unexpected Benefit

In June, I noticed my pinky finger on the left hand felt numb. I tried several exercises, but the sensation was still there. About a month later, I noticed the right pinky finger was a little more numb. It was not as pronounced as the left, but still noticeable.

For several years, the bottoms of my feet and toes have been numb or tingly. I tried different techniques to stimulate the nerves, but nothing seemed to work. In early August, the feet were particularly bad. One evening, I used my hands to massage my feet. The feet were more sensitive than I thought they would be when I performed a deep tissue massage. At times, it was slightly painful. Yet, they felt better afterward.

I kept up the evening massages and noticed a positive pronounced difference in regards to sensations. The tingling and numb feeling is barely noticeable. The toes also have more feeling. By the end of August, something else became apparent. I no longer had the numb feeling in the pinky fingers on both hands.

It is mid-September and the bottoms of my feet and my toes are remarkably better. I have not experienced the numbness in my fingers for at least three weeks. I will continue my evening massages and let you know if anything changes. But, for now, I like the results.

Photo: Modernreflexology.com

It’s that time of year again

My annual doctor’s visit seems to come around a little quicker every year. Fortunately, I have an excellent doctor who listens well, discusses options, and allows me to help decide the best course of action should any be necessary. Of course, I always look forward to reviewing my blood panel analysis. 

Yesterday, I started my “what has happened over the last year” list. My health journal is the basis for this list. It is my observations and comparisons to one year ago. The list gives us an opportunity to discuss if these issues are related to Kennedy’s Disease, aging, another health issue, or a combination of any of these.

This year’s list is interesting and I thought I would share a few items. As usual, there is some good mixed in with the bad. 

A.     Noticeable loss of strength:

·         Arms, shoulders, hand and fingers (More than normal over the last few years)

·         Nasal passage muscles (I am much more nasally sounding)

B.     Little or no difference from last year:

·         Leg strength (Quads, knee, calf, ankle and hip)

·         Neuropathy in the feet (Doesn’t appear to be any worse)

·         Choking and swallowing

C.     Having greater difficulties with:

·         Taking showers and drying myself afterward

·         Holding things like a glass of water, a plate, etc. (I am dropping more things these days)

·         Getting dressed and undressed (i.e., putting on socks and pants - especially when it is cold)

D.     Unchanged Routines:

·         I still exercise every day - odd days are 90-100 minutes of exercises and even days are 15-20 minutes

·         Every 3-4 hours each day I perform 36-50 standing leg lifts

E.      Changes in Routines:

·         I eat a large salad every day for lunch

·         I quit eating ice cream (After six decades of this daily addiction, I found out I don’t miss it)

·         Bread consumption is now a rarity (I don’t miss this either)

F.      Medications:

·         Dutasteride (Avodart) (I believe this has worked well for me)

I look forward to another stimulating conversation as we lay out my 2015 health care plan. And, hopefully, I won’t have to see him again until December of next year.

When is cold not always cold?

One of the undiagnosed systems associated with Kennedy’s Disease is sensory neuropathy. For years it was never listed or even associated with diagnosing Spinal Bulbar Muscular Atrophy (SBMA) or Kennedy’s Disease. I have commented in earlier articles about my neuropathy systems. This week, another person living with Kennedy’s Disease asked what my symptoms were like, so I thought this would be a good opportunity to discuss the subject again.

The website Medical News Today had some good information on this subject.

What is Neuropathy?

Neuropathy is a collection of disorders that occurs when nerves of the peripheral nervous system (the part of the nervous system outside of the brain and spinal cord) are damaged. The condition is generally referred to as peripheral neuropathy, and it is most commonly due to damage to nerve axons. Neuropathy usually causes pain and numbness in the hands and feet. It can result from traumatic injuries, infections, metabolic disorders, and exposure to toxins. One of the most common causes of neuropathy is diabetes.


Neuropathy can affect nerves that control muscle movement (motor nerves) and those that detect sensations such as coldness or pain (sensory nerves). In some cases - autonomic neuropathy - it can affect internal organs, such as the heart, blood vessels, bladder, or intestines.


Pain from peripheral neuropathy is often described as a tingling or burning sensation. There is no specific length of time that the pain exists, but symptoms often improve with time - especially if the neuropathy has an underlying condition that can be cured. In the United States, about 20 million people suffer from neuropathy.

What are the Symptoms for Sensory Nerve Damage Neuropathy?

Sensory nerve damage can cause various symptoms, such as an impaired sense of position, tingling, numbness, pinching and pain. Pain from this neuropathy is often described as burning, freezing, or electric-like, and many report a sensation of wearing an invisible "glove" or "stocking". These sensations tend to be worse at night, and can become painful and severe. Sensory nerve damage may lead to a lessening or absence of sensation, where nothing at all is felt.

How can Neuropathy be managed?

There are several ways to manage neuropathy and prevent its symptoms. Good foot health is important, especially for diabetics. Patients should check feet for blisters, cuts, or calluses and avoid tight fitting shoes and socks. Doctors can recommend an exercise plan that will reduce neuropathy pain and control blood sugar levels. Patients should also quit smoking and eat healthful meals. Massages of hands and feet may also aid neuropathy management by stimulating nerves and temporarily relieving pain.

My Sensory Issues

My neuropathy is caused by sensory nerve damage and that is why I focused on it above. The three main areas/symptoms for me are:

1. Feet and lower legs always feel cool or cold ... even if they are warm when touched. I normally cannot go to sleep when they feel cold.
2. A burning sensation in the heels ... mainly in the left leg. Often the burning sensation is so intense I cannot got back to sleep.
3. Hands and fingers not as sensitive to hot and cold. This becomes  an issue with freezing weather or when picking up hot items.

What works for me?

1. Cold Sensation: If I wear calf length socks in bed, the feeling goes away quicker. An electric blanket also seems to help. Normally about an hour or two later I can remove the socks and be fine.
2. Heel pain: Massaging the area seems to help immediately. Placing a pillow under the shin area to hold the heel off of the bed seems to help also.
3. Hands and fingers: Massage, gloves, pot-holders, and awareness of the problem seems to help. I especially have to be careful when picking up something hot because I can blister before the pain hits.

Do you have any neuropathy issues?

Please let me know if you have any issues with neuropathy. What kind, where and what you do to help the issue?

Cold Feet!

Kennedy’s Disease has a number of symptoms. One symptom that is hardly ever listed is neuropathy. Until a few years ago, it was never even mentioned.

Wikipedia explains peripheral neuropathy as follows:

Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of or trauma to the nerve or the side-effects of systemic illness.


The most common form is (symmetrical) peripheral polyneuropathy, which mainly affects the feet and legs. Neuropathy may be associated with varying combinations of weakness, autonomic changes, and sensory changes. Loss of muscle bulk or fasciculations, a particular fine twitching of muscle, may be seen. Sensory symptoms encompass loss of sensation and "positive" phenomena including pain. Symptoms depend on the type of nerves affected (motor, sensory, or autonomic) and where the nerves are located in the body. One or more types of nerves may be affected. Common symptoms associated with damage to the motor nerve are muscle weakness, cramps, and spasms. Loss of balance and coordination may also occur. Damage to the sensory nerve can produce tingling, numbness, and pain. Pain associated with this nerve is described in various ways such as the following: sensation of wearing an invisible "glove" or "sock", burning, freezing, or electric-like, extreme sensitivity to touch.


Medical News Today describes sensory neuropathy as:

Sensory nerve damage can cause various symptoms, such as an impaired sense of position, tingling, numbness, pinching and pain. Pain from this neuropathy is often described as burning, freezing, or electric-like, and many report a sensation of wearing an invisible "glove" or "stocking". These sensations tend to be worse at night, and can become painful and sever. On the contrary, sensory nerve damage may lead to a lessening or absence of sensation, where nothing at all is felt.


Today, neuropathy is more widely accepted as a symptom for many of us living with Kennedy’s Disease. Knowing about something is one thing, but living with it is something else.

Let me digress for a moment. I hate cold feet!




One change that has bugged me in recent years is my cold feet. I was the one in the family that didn’t use a blanket except a light one in the winter. I was the one that my wife stuck her freezing cold feet on when she first crawled into bed. About eight years ago I noticed that I needed a blanket all year round. Even worse, my feet never seem to get warm. In bed I can have three blankets on my feet and they still feel cold. I now have to wear socks to bed in the fall, winter and spring. I also need an electric blanket during the winter ... something I never used before.

Guess what? If I touch my feet, they are warm. Even more frustrating is when I know my feet are warm to the touch, I still cannot go to sleep because they ‘feel’ cold.

Something else that has happened in recent years is I occasionally wake up with a burning sensation in the heals of my feet.  Unless I rub (massage) my heals for a few minutes, the sensation will not go away.

Neuropathy also explains why we have so much trouble maintaining our balance while standing for any length of time. The sensations are not being transmitted to the brain quickly enough for the body to respond.

I know ... ‘man-up’ ... accept it and get on with life! But that doesn’t mean I still can’t complain about it occasionally, right?