Falls grandma
09-26-2008, 08:57 PM
Is there anyone that has C.M.T? I have had nine people in my family who have had this through the years.My sister and I are the only two left in the family with this hereditary disease. Hopefully none of the grandchildren show up as young adults with this.In the early years after I was diagnosed it was very gradual and I stayed as active as I could. In the last couple years I was also diagnosed with Autonomia. And it seems to be accelerating more and more all of the time.Has any one else been told that they have developed Aunomic Dysfunction after they have a neuromuscular condition?
Falls Grandma
Falls Grandma
Sponsor
michigani
09-27-2008, 06:20 PM
Hi Falls Grandma,
I've posted many times about the data I've gathered on over 70 types of Muscular Dystrophy. I keep my data updated monthly. I do this in hopes of figuring out which type of MD that I have. I keep the most likely "suspects" at the top of my list. Most likely I have a Limb-Girdle MD. But I am always happy to share my data with others. Charcot-Marie-Tooth happens to be halfway down my list of suspects at #31, but here is what I have collected:
Charcot-Marie-Tooth MD
Also Known As: CMT Types 1, 2, 3 and X(4)
Inheritance: Dominant, Recessive or X-Linked (Only CMT & Adult Spinal Atrophy share this unusual inheritance trait)
Gene Location: Unknown
Gene Mutation CMT1: myelin
Gene Mutation CMT2, CMT3, CMTX(4): Unknown
Avg. Age @ Onset: Child to Young Adult
Affected Worst: Hands, Lower Legs, Feet
Progression: Slow
Other Characteristics: Feet Deformities have been noted in some cases
As you can see the characteristics are all over the map. It can be inherited from almost any source and affect a person at any age. And there are at least 4 sub-types. Hopefully you'll get some answers and the grand kids in your family will be spared. Best of luck.
Mark
I've posted many times about the data I've gathered on over 70 types of Muscular Dystrophy. I keep my data updated monthly. I do this in hopes of figuring out which type of MD that I have. I keep the most likely "suspects" at the top of my list. Most likely I have a Limb-Girdle MD. But I am always happy to share my data with others. Charcot-Marie-Tooth happens to be halfway down my list of suspects at #31, but here is what I have collected:
Charcot-Marie-Tooth MD
Also Known As: CMT Types 1, 2, 3 and X(4)
Inheritance: Dominant, Recessive or X-Linked (Only CMT & Adult Spinal Atrophy share this unusual inheritance trait)
Gene Location: Unknown
Gene Mutation CMT1: myelin
Gene Mutation CMT2, CMT3, CMTX(4): Unknown
Avg. Age @ Onset: Child to Young Adult
Affected Worst: Hands, Lower Legs, Feet
Progression: Slow
Other Characteristics: Feet Deformities have been noted in some cases
As you can see the characteristics are all over the map. It can be inherited from almost any source and affect a person at any age. And there are at least 4 sub-types. Hopefully you'll get some answers and the grand kids in your family will be spared. Best of luck.
Mark
SHANTACLARE61
09-29-2008, 12:33 PM
Hi Falls Grandma,
I've posted many times about the data I've gathered on over 70 types of Muscular Dystrophy. I keep my data updated monthly. I do this in hopes of figuring out which type of MD that I have. I keep the most likely "suspects" at the top of my list. Most likely I have a Limb-Girdle MD. But I am always happy to share my data with others. Charcot-Marie-Tooth happens to be halfway down my list of suspects at #31, but here is what I have collected:
Charcot-Marie-Tooth MD
Also Known As: CMT Types 1, 2, 3 and X(4)
Inheritance: Dominant, Recessive or X-Linked (Only CMT & Adult Spinal Atrophy share this unusual inheritance trait)
Gene Location: Unknown
Gene Mutation CMT1: myelin
Gene Mutation CMT2, CMT3, CMTX(4): Unknown
Avg. Age @ Onset: Child to Young Adult
Affected Worst: Hands, Lower Legs, Feet
Progression: Slow
Other Characteristics: Feet Deformities have been noted in some cases
As you can see the characteristics are all over the map. It can be inherited from almost any source and affect a person at any age. And there are at least 4 sub-types. Hopefully you'll get some answers and the grand kids in your family will be spared. Best of luck.
Mark
Hello Mark,
I remember when I first came on here you said that you thought you could possibly have Bethlem myopathy. I was wondering if that was still on your list. If so what new research have you found on IT. If not, what differences make it not so?
Mary
I've posted many times about the data I've gathered on over 70 types of Muscular Dystrophy. I keep my data updated monthly. I do this in hopes of figuring out which type of MD that I have. I keep the most likely "suspects" at the top of my list. Most likely I have a Limb-Girdle MD. But I am always happy to share my data with others. Charcot-Marie-Tooth happens to be halfway down my list of suspects at #31, but here is what I have collected:
Charcot-Marie-Tooth MD
Also Known As: CMT Types 1, 2, 3 and X(4)
Inheritance: Dominant, Recessive or X-Linked (Only CMT & Adult Spinal Atrophy share this unusual inheritance trait)
Gene Location: Unknown
Gene Mutation CMT1: myelin
Gene Mutation CMT2, CMT3, CMTX(4): Unknown
Avg. Age @ Onset: Child to Young Adult
Affected Worst: Hands, Lower Legs, Feet
Progression: Slow
Other Characteristics: Feet Deformities have been noted in some cases
As you can see the characteristics are all over the map. It can be inherited from almost any source and affect a person at any age. And there are at least 4 sub-types. Hopefully you'll get some answers and the grand kids in your family will be spared. Best of luck.
Mark
Hello Mark,
I remember when I first came on here you said that you thought you could possibly have Bethlem myopathy. I was wondering if that was still on your list. If so what new research have you found on IT. If not, what differences make it not so?
Mary
michigani
09-29-2008, 04:57 PM
Here's the info I have:
Bethlem Myopathy
Gene Mutation: Collagen VI
Gene Location: 21q22
Avg Age @ Onset: 2-50
CK: <1750
Muscles Affected: Proximal
Heart Problems: Yes, reported
Contractures: fingers reported
Progression: Slow
Other Notes: Benign (I know what "benign" means but I'm not sure what they mean by this, maybe that it sometimes doesn't get much worse, ???)
Actually, Bethlem is #4 on my list! (Right in the middle of a dozen LGMDs) Unfortunately it's 1 of 2 on my whole list that the inheritance is unknown. I have 70 diseases on my list.
Bethlem Myopathy
Gene Mutation: Collagen VI
Gene Location: 21q22
Avg Age @ Onset: 2-50
CK: <1750
Muscles Affected: Proximal
Heart Problems: Yes, reported
Contractures: fingers reported
Progression: Slow
Other Notes: Benign (I know what "benign" means but I'm not sure what they mean by this, maybe that it sometimes doesn't get much worse, ???)
Actually, Bethlem is #4 on my list! (Right in the middle of a dozen LGMDs) Unfortunately it's 1 of 2 on my whole list that the inheritance is unknown. I have 70 diseases on my list.
SHANTACLARE61
09-30-2008, 03:14 PM
Thanks, I hadn't known all of that information. The inheritance thing really baffles me. I'm one of 30 grandchildren on my mothers side (oldest is 50 and the youngest is 36)and I'm the only one who isn't or hasn't been very athletic. On my fathers side I'm one of 6 but same thing goes with athletics. None of my aunts or uncles has any signs either. Unfortunately maybe it all started with me and even more unfortunately I passed it on to my 11 yr. old son.
michigani
09-30-2008, 04:35 PM
Thanks, I hadn't known all of that information. The inheritance thing really baffles me. I'm one of 30 grandchildren on my mothers side (oldest is 50 and the youngest is 36)and I'm the only one who isn't or hasn't been very athletic. On my fathers side I'm one of 6 but same thing goes with athletics. None of my aunts or uncles has any signs either. Unfortunately maybe it all started with me and even more unfortunately I passed it on to my 11 yr. old son.
No one is ever to blame for passing on a bad gene. I have to worry about this too, but I never blamed my dad in the least......I'm sure he didn't want it either! Take care and stay optimistic :)
Mark
No one is ever to blame for passing on a bad gene. I have to worry about this too, but I never blamed my dad in the least......I'm sure he didn't want it either! Take care and stay optimistic :)
Mark
SHANTACLARE61
10-01-2008, 12:55 PM
Thanks, I appreciate your understanding.