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Kennedy's Disease?
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Registered: 02-26-2013
Posts: 9
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Interesting past, starts back in 1989. Starts with Chest Pain with an emergency room visit. I could relieve my chest pain by leaning forward. I ended up being admitted to hospital because of an abnormal EKG. Ran all sorts of test, one test found a blockage, exercise thallium stress test. Into Boston to for heart cath. Dr's in Boston decided that my EKG although abnormal wasn't abnormal enough, assumed I had myositis or pericarditis. In 1994, chest pain returned, but with a twist, odd feeling, loss of breath, like a shake in my upper chest, neck, throat area. To hospital because I felt very ill and the loss of breath scared the heck out of me. I was going to be sent home when all of a sudden dr's are all over me because of a high CPK. Later I'm told it's not from heart, from muscle, spent several days in hospital and then off seeing Rheumatologist, Endocrinologist, and Finally Neurologist. All this time, I had muscle twitching but I was telling everyone it was spasm because I thought my a fasciculation was a spasm. I have a 3 inch gash on my thigh from a muscle biopsy. Last dr. I saw was a neurologist in 1995 that said, you've got something but we don't know what. You have no weakness so when you have weakness come back. Fasciculations have been consistent for 19 years. All over, no weakness, up to this year. I'm beginning to have weakness in my right leg. 43 years old. When I tell you muscle twitching, I mean muscle twitching, every muscle, everywhere, 24 hours per day 7 days per week 19 straight years, my arches in my feet have not stopped, it's constant, even when I think they've stopped because I can't feel them, if I look they are there! Recently within the last 6 months, I've noticed that my voice sometimes sounds like I'm going through puberty. I've had gynescomastia since puberty, along with other endocrine issues.....I know I can't give to my son but my son recently has had some twitching, some chest pain, he's a late bloomer, 20's with no hair under arms, and he has gynescomastia.......It's odd. I'm hesitant on more testing unless I have more weakness.
Registered: 08-02-2009
Posts: 206
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Hi Rob,
There is no need to worry over whether you have KD or not. There is a simple blood test that should be able to be done by any doctor, or if your local doctors can't do it, one of the physicians at this link: http://www.kennedysdisease.org...-disease/kda-doctors

As you pointed out, if your son has exactly the same symptoms as you, it's impossible that you both have KD, since it is not passed father to son.
Registered: 02-26-2013
Posts: 9
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I believe that I and my son have a variant. I'm certain there is something occurring with myself and thought for sometime that it was Kennedy's but my son has been progressing with more twitching and cramping. I have observed some initial symptoms that he has recently developed such as twitching in his hand causing his thumb to move along with cramping in his hands and behind his knees. He's not aware that at rest his fingers are curled. Is there someone in the Boston or Providence, RI area that someone could recommend?
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Registered: 09-28-2005
Posts: 654
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Rob, I am not aware of anyone in R.I. There are several in Massachusetts, however. Follow this link: Mass Doctors

If you do locate a qualified doctor in R.I. or CT, please let me know so I can add the doctor's name to our database. Good Luck!
Registered: 02-26-2013
Posts: 9
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I have an appt. Is there a dominant form? Some sights list symptoms fir the domnant form. How is this possible
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Registered: 09-28-2005
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Rob, I have not heard of this term. Perhaps it is referring to a carrier who has a normal and a defective gene. A man has only one "x" chromosome and if it is defective, the only question is what the CAG Repeat Triplet count is to help determine the age of onset. I hope this helps.
Registered: 02-26-2013
Posts: 9
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Its called bulbo spinal muscular atrophy with gynescomastia. (Autosonal dominant
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Registered: 09-28-2005
Posts: 654
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Rob, this is what that means:

Autosomal dominant
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Autosomal dominant is one of several ways that a trait or disorder can be passed down through families.

If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease. One of the parents may often have the disease.

Ref. bulbo spinal muscular atrophy. That is just another one of the many names for SBMA (Kennedy's Disease).

I hope this helps.
Registered: 02-26-2013
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Search for what i typed and tell me if kennedys and bsma with gynescomastia are the same dusease. They appear as something similar but transmitted differently
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Registered: 09-28-2005
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Rob, you need to look at the dates of the studies. Some are several years old and have not been updated. Follow this link: BSMA and you will note it is also called Kennedy's Syndrome, aka KD, aka SBMA, etc.

For example: When my family was tested in the 80s, I was diagnosed with Familial ALS. When I contacted the same lab in the early 2000s asking them to review my tests, they confirmed it was KD and not ALS.
Registered: 02-26-2013
Posts: 9
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The link u provided lists bsma with gynescomastia as autosomal dominant.

How is this possible?
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Registered: 09-28-2005
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Rob, I am not certain what you are asking. Please clarify and I will try to respond.
Location: Cornwall. UK
Registered: 04-09-2012
Posts: 53
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Hi Rob. I dont know if this may help you but I was diagnosed as having X-Linked Spinal Bulbar Muscular Atrophy (KD) in Feb 2012. I developed Gynecomastia in puberty and had the tissue removed in my mid 20s. I am 61 now and the Gynecomastia has returned. Gynecomastia as far as I am aware is a common symptom for some males with KD. Sons inherit the disease from their mothers, and cannot inherit KD from their fathers. Best wishes to you. Eric

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Location: Cornwall. UK
Registered: 04-09-2012
Posts: 53
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Hi Rob. Hope these diagrams may be of help to you.

Registered: 02-26-2013
Posts: 9
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I understand that SBMA is X-linked. But the link that Bruce provided lists a sub-type that says BSMA with gynescomastia as autosomal dominant?

Bulbo-Spinal Muscular Atrophy with Gynecomastia (Autosomal Dominant)1
l Autosomal Dominant

Onset
2nd or 3rd decade
Nasal voice
Postural tremor
Lower motor neuron syndrome
Tongue: Atrophy; Fasciculations
Limbs
Weakness: Mild asymmetry; Proximal + Tibialis anterior
Atrophy
Fasciculations
Tendon reflexes: absent
Normal: Sensation & Autonomic function
Cranial nerves: Decreased Upgaze & Convergence (50%)
Systemic
Gynecomastia
No other signs of androgen insensitivity
Laboratory
Serum CK: Mildly elevated
EMG: Acute & Chronic denervation
Motor evoked potentials (Magnetic stimulation: Prolonged central conduction time


Am i mis-reading something or not understanding something?

http://neuromuscular.wustl.edu/synmot.html#bsma

Cut and paste the link and scroll down.
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