Rob, do you believe you might have BSMA rather than KD?

I believe the confusion is in the many names for Spinal Bulbar Muscular Atrophy. The Genetics Home Reference Guide Link to Guide shows the following:

What other names do people use for spinal and bulbar muscular atrophy?

bulbo-spinal muscular atrophy, X-linked
KD
Kennedy disease
Kennedy's disease
Kennedy spinal and bulbar muscular atrophy
SBMA
X-linked spinal and bulbar muscular atrophy

Gynescomastia is just a symptom and autosomal dominant just indicates X-linked.

I'm not sure what I have. I've been twitching, fasciculating for 20 years. My CPK has been high (between 700-900) for 20 years. I just had my physical and my dr. referred me to a neurologist at my request. Not only is my CPK elevated by my liver enzymes have been elevated at times over the 20 years. CPK has never been lower than 700 and never higher than 1000. I've had gynescomastia since puberty. Not the fatty type you see in pictures, it's the swollen nipple type, I've heard it called "true" gynescomastia. No clinical weakness. Left leg is much more active with fasciculations than the rest of the body. I twitch all over. Everywhere but more so in my arches of my feet, calves, thighs, hamy's. My first experience with twitching was several weeks straight in my back then my hands back 20 years ago. First cramping was the area opposite by thumb in my hand some 20 years ago. Today I cramp in the area between my calf muscle and heel. Not a true cramp, just feels like it's going to cramp. I have lots of hypnic jerks while trying to fall asleep. I get a sharp pain, almost an itchy feeling random places in my body at rest, it startles me, sometimes makes me wince in pain. My wife sometimes asks if I'm ok. So i've dealt with this for a long time and I probably would continue. I'm not a complainer. But my son has the same type of gynescomastia as me and he told me the other day that sometimes he doesn't even know he's twitching unless he looks at his leg. He hands cramp and the area behind his knees cramp. After talking with my sister she tells me she cramps all the time and also fasciculates but not as bad as me. I can show anyone at anytime a spot...

So I've got a referral to one of those headache neurologists....I'm not in the mood for all the tests that never give you a definitive answer, done that 20 years ago.

I'm hoping this neurologist realizes they are in over their heads and refers me to a neuromuscular specialist.

I'm 43 my son is 20.

Rob, several of the symptoms could be related to KD. Your family doctor or a neurologist can draw some blood and have it sent off for a DNA test. The CAG Repeats will be elevated if it is KD. The link to the actual test is: DNA Test

I know how frustrating it can be to not have a diagnosis. Good luck!

Hello,
I am 36years old from Greece.
When I was 16 years I noticed hand weakness and
doctors told me I had SMA.
Today I have progressive weakness in my right hand and low sperm count and mobility.
I did gene test for SMA and turned to be negative
and I will have a BSMA gene test.
I have only hand weakness, low sperm count and mobility and no others symptoms. I play football, basketball, weight lifting, breath, chew etc norma

Stratos, thanks for participating in the KDA Forum. Yes, the DNA test will determine if you have Kennedy's Disease (SBMA). It sounds like you are doing well, so keep exercising ... and keep us advised.

Neurologist I saw today had never heard of SBMA....believes my elevation of CPK and large calf muscles (large enough that it's tough to roll up the pants) are from Myoadenylate deaminase deficiency. Brushed off the fasciculations. If this is true, then I apologize for wasting your time...thanks for your feedback.

Rob, you are not wasting our time. When I reviewed your symptoms, several of them could be related to Spinal Bulbar Muscular Atrophy (Kennedy's Disease). If after further testing, your doctor cannot validate MDD, ask him to draw some for a DNA test. Both MDD and KD are hereditary, so it should show up. Take care and good luck.

I did dna testing for kennedy disease and it was negative. I don't know if I can laugh or cry
because doctors believe that I have hirayama
disease? Is that better or worse?
If anyone can ever say that...

I looked up Hirayama's Disease. I noticed it is another disease without a treatment. The atrophy issue appears to stabilize and that is positive.

"The muscular atrophy associated with Hirayama’s disease stabilizes at a plateau of between two and five years. After this period of time, the muscular atrophy does not improve; however, it does not worsen either. People with Hirayama’s disease do not experience pain or sensory loss because of the disease. Unlike other forms of lower motor neuron diseases, Hirayama’s disease is not one that is believed to be hereditary. For people who have this disease, ‘fasiculations,’ or involuntary muscle twitches, are rare."

Like most anything in life, there is no better or worse, there is just 'is'. Be thankful the cause of your symptoms have been identified and move forward with that knowledge.

There is a possibility for a man to pass KD to a son.

Supposedly about 1 in 500 to 1 in 1000 men are born XXY and this can occur when a father passes on both X and Y chromosomes or the mother passes on XX. However, one would expect that only half of XXY male carrying KD would express it as typically one of the X chromosomes is inactivated. So the odds of a man with KD having a son expressing KD ought to be about 1 in 4000 though I've yet to hear of a case.