I'm a 47 year old carrier of BMD.  My father and 2 of his brothers (uncles) all had Beckers MD.  I know that this site is for Duchenne, but i cannot find a site like this one for Beckers.  I have so many questions about this disease with no family members left to ask about it.  My father passed away 17 years ago, and both his bothers years before that.  My mother who may have had info for me passed 10 years ago.

I'm specifically looking for info regarding manifesting carriers for BMD.  I have been plagued with some mystifying health problems since 2001.  When i received the news that i was a carrier of BMD i was quite young (in 1974 or 75 i think).  All i was told that i had a 50/50 chance of my children being affected.  When my strength started deteriorating, the dystrophy crossed my mind only for a fleeting moment.  Didn't give it much thought because i was told i would not develop any symptoms, just carry it.  Just recently, after this test and that test and many doctors finding nothing apparently wrong, did dystrophy cross my mind again.  Happened upon an article of Manifesting carriers of BMD & DMD - i was somewhat shocked at what i was reading and asking myself why i'd never heard any of this before from any of my doctors.

This leads me to the questions i have and hoping someone can answer them.

1. Is this relatively new information?

2. If i tested genetically as a carrier, then why would my ck levels now be normal? Should those still be elevated?  I do know they were elevated at 18 months old and again when i was 11 or 12, i remember this from paper work i had read just before having my children (daughter 23 non-carrier, son 21 healthy, my miracles.)

3. would it be beneficial for me to speak with a doctor that specializes in MD, and how do i find one?

4. Are manifesting carriers symptoms of BMD  the same as those of DMD?

This of course is just the start of so many questions.  If anyone can answer these of direct me where to find them, it would be greatly appreciated.

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Hello Jeanne,

I work at PPMD and I am a genetic counselor and the coordinator of the DuchenneConnect Registry.  I am happy to answer your questions: 

1.  There have always been a small percentage of DBMD carriers who are manifesting carriers, but most people (including many healthcare providers and physicians) are not aware of this.  The majority of carriers are just that...they carry the gene but have no symptoms.  But, we are now finding that more female carriers have symptoms than we previously thought, especially the cardiac complications (cardiomyopathy).

2.  CK levels can normalize over time, so it is not that unusual that your CK levels are in the normal range now.  Have you had genetic testing to confirm that you are a carrier of BMD?  If your father definitely had Becker, then you would be an obligate carrier.  However, in the past some men were incorrectly diagnosed with Becker when they really had another type of muscular dystrophy, such as limb girdle.  If no one in your family ever had genetic (DNA) testing to confirm the diagnosis of Becker, you should consider having this done.    

3.  Yes, you should definitely see a doctor that specializes in muscular dystrophy.  I would recommend seeing a neurologist who specializes in DBMD.  The neurologist could also order genetic testing for you, if needed.  You should also see a cardiologist (a heart specialist).  These doctors should not be hard to find if you live near a big city.  If you need help locating specialists, let us know. 

4.  Yes, the symptoms would be the same...muscle weakness, fatigue and cramping, and cardiomyopathy.

Let me know if you have any other questions!

Best regards,

Ann Martin, MS, CGC

 

Hi Jeanne,

I am also a carrier of BMD.  I found out after my son was diagnosed with BMD/DMD.  This is not new.  I think the problem is a lot of older family doctors and even newer doctors today do NOT really know about Duchenne or Beckers.  When my son was about 4 years old he was falling, his Pre-K teacher said he cld not jump, hop or run like children his age.  Well we went to 4 doctors who told us anything from his potassium is probably low, he has growing pains, one leg is shorter than the other, and pretty much told us don't worry.  Well this went on for 3 years and finaly took him to a ortho doctor who referred us to a neurologist.  Well the neurologist knew before doing any testing that it was Beckers.  Well he had testing and they told me since he had BMD I may be a carrier.  Well I did my dna testing and I am a carrier.  I think you should see a DMD doctor, usually a neurologist who specializes in movement disorders, you can go to MDA website and it will direct you to a local MDA physician in your area.  manifesting carriers are not anywhere close to DMD.  I have had weakness but nothing where i am unable to walk or any of the symptoms my son had or any other DMD patient.  i do notice that stairs are really hard for me.  I can go up one flight and be completely out of breath, legs burn with weakness and I do notice from a crouched positoin to a standing position I have to really push off my thighs to get up or hold onto something next to me.  As far as your CK levels goes, mine is normal.  it really from what I know only is elevated if you are a boy with DMD.   but my neurologist says there have been reports of some women carriers having some symptoms of muscle weakness but not like the boys.  yes there is a chance you could have passed the defaulty gene to your son or your daughter.  my daughter is 13 and we have not had her tested.  the doctors tell us not to test her because she will have preexisting but the genetics doctor say to test her.  We are going to wait until she is ready to decide to have children when she is an adult.  What I have been told is that carriers of DMD/BMD may have enlarged heart issues later in their 40s and beyond.  This is the major problem/concern for carriers.  I was told I should have an ekg, echo, stress test every year after I reach age 40.  I have had two so far adn everything is okay.  if you look on PPMD site and MDA sites you will find alot of info.  I hope this helps but let me know if you have any more questions. 

Hi Ann. 

Thank you for the information.

My father and his brothers were all genetically tested and outcome being Beckers.  I also was genetically tested as a preteen and the outcome being a carrier of Beckers.  My fathers course of the disease was a bit slower than my uncles and he walked (with severe gait) until he was 39, and lived to be 60.  From what i understand, and from the course my uncles took, this is a bit unusual. 

I've now read a few things from other women that are carriers and symptoms seem very similar.  I was always small and frail as a child and never very athletic and always tired.  As a teenager, i noticed that i wasn't as strong as most girls my age and was teased (by my brothers mostly) about the way i ran.  I've had trouble with hip pain and weakness since a junior in high school.  But none of that was ever too troublesome.  It wasn't until i was about 35 or 36 that i started having (or noticed) much more difficulty with my coordination and strength along with muscle pain and cramping.  I would explain the cramping as severe "charlie horses" and the pain like the burning pain a person might have after an extreme workout.  Now, i struggle with even a gallon of milk most of the time.  I catch myself putting my hand on my knee to climb stairs to strengthen my leg - I recently had a memory flash of my father doing the same thing when he was still walking.  Of course, my issues can hardly compare to what he experienced. 

Is it common place for a manifesting carrier to have symptoms that progress?

I have lost all of the medical information i had years ago.  Is there someway to look up medical files from decades ago?  I know that the hospital that did the testing while i was pregnant with my children is no longer in existence.  That would be the most recent testing and my children are now 23 and 21 years old.

I know that even if the symptoms I'm have are in fact related to BMD there really is nothing that can be done, but i would feel better knowing what it is.

Again, Thank you.

Ann Martin said:

Hello Jeanne,

I work at PPMD and I am a genetic counselor and the coordinator of the DuchenneConnect Registry.  I am happy to answer your questions: 

1.  There have always been a small percentage of DBMD carriers who are manifesting carriers, but most people (including many healthcare providers and physicians) are not aware of this.  The majority of carriers are just that...they carry the gene but have no symptoms.  But, we are now finding that more female carriers have symptoms than we previously thought, especially the cardiac complications (cardiomyopathy).

2.  CK levels can normalize over time, so it is not that unusual that your CK levels are in the normal range now.  Have you had genetic testing to confirm that you are a carrier of BMD?  If your father definitely had Becker, then you would be an obligate carrier.  However, in the past some men were incorrectly diagnosed with Becker when they really had another type of muscular dystrophy, such as limb girdle.  If no one in your family ever had genetic (DNA) testing to confirm the diagnosis of Becker, you should consider having this done.    

3.  Yes, you should definitely see a doctor that specializes in muscular dystrophy.  I would recommend seeing a neurologist who specializes in DBMD.  The neurologist could also order genetic testing for you, if needed.  You should also see a cardiologist (a heart specialist).  These doctors should not be hard to find if you live near a big city.  If you need help locating specialists, let us know. 

4.  Yes, the symptoms would be the same...muscle weakness, fatigue and cramping, and cardiomyopathy.

Let me know if you have any other questions!

Best regards,

Ann Martin, MS, CGC

 

Hello Donna, it's a pleasure to meet you.

Thank you for the reply.  Means a great deal to me.  I'm sorry to hear about your son, and your carrier status.  I feel a bit selfish worrying about my symptoms when so many others have it much harder.

You had mentioned you ck or cpk levels are normal as well.  If you don't mind me asking, how old were you when you were tested as a carrier?  Also curious of how old you are now, a bit younger than me i gather. I remember reading that mine were elevated at 18 months old and then again when i was genetically tested as a pre-teen. And now, normal - i mean, right in the middle of the range of normal too.  Because of that, my neurologist said he didn't think my symptoms were related.  Then again, i'm not sure if he's all that well acquainted with BMD.  According to Ann's reply to me, those levels reduce as you get older.

Do you have any other family history of BMD other than your son?

I'm sorry that my reply's are so long and still full of questions.  The more i learn, the more i want to learn.

You will now be in my thoughts and prayers,

Jeanne


Donna Cicardo said:

Hi Jeanne,

I am also a carrier of BMD.  I found out after my son was diagnosed with BMD/DMD.  This is not new.  I think the problem is a lot of older family doctors and even newer doctors today do NOT really know about Duchenne or Beckers.  When my son was about 4 years old he was falling, his Pre-K teacher said he cld not jump, hop or run like children his age.  Well we went to 4 doctors who told us anything from his potassium is probably low, he has growing pains, one leg is shorter than the other, and pretty much told us don't worry.  Well this went on for 3 years and finaly took him to a ortho doctor who referred us to a neurologist.  Well the neurologist knew before doing any testing that it was Beckers.  Well he had testing and they told me since he had BMD I may be a carrier.  Well I did my dna testing and I am a carrier.  I think you should see a DMD doctor, usually a neurologist who specializes in movement disorders, you can go to MDA website and it will direct you to a local MDA physician in your area.  manifesting carriers are not anywhere close to DMD.  I have had weakness but nothing where i am unable to walk or any of the symptoms my son had or any other DMD patient.  i do notice that stairs are really hard for me.  I can go up one flight and be completely out of breath, legs burn with weakness and I do notice from a crouched positoin to a standing position I have to really push off my thighs to get up or hold onto something next to me.  As far as your CK levels goes, mine is normal.  it really from what I know only is elevated if you are a boy with DMD.   but my neurologist says there have been reports of some women carriers having some symptoms of muscle weakness but not like the boys.  yes there is a chance you could have passed the defaulty gene to your son or your daughter.  my daughter is 13 and we have not had her tested.  the doctors tell us not to test her because she will have preexisting but the genetics doctor say to test her.  We are going to wait until she is ready to decide to have children when she is an adult.  What I have been told is that carriers of DMD/BMD may have enlarged heart issues later in their 40s and beyond.  This is the major problem/concern for carriers.  I was told I should have an ekg, echo, stress test every year after I reach age 40.  I have had two so far adn everything is okay.  if you look on PPMD site and MDA sites you will find alot of info.  I hope this helps but let me know if you have any more questions. 

Hi Donna, me again. I was just thinking about your daughter, and about me when i was her age knowing i was a carrier already.  I'm not trying to influence you decision because it is a tough one to make, however, i believe that with myself, knowing from an early age gave me more time to decide what to do.  I had years to figure it out, and for me that helped.  I must admit, i did decide not to have children because of it.  I new i wasn't strong enough (and i mean emotionally) to handle what may be.  I give you so much credit, just like i did my grandmother with three boys out of 4 that had BMD.  Both my children were what i call . . .  pleasant surprises.  Was i worried, you bet!  But because of all the time i had to accept things, i was more than ready to deal with it.  Just something to ponder while making your decision on weather to have her tested or not.  My daughter is not a carrier, there is a good chance yours is not either.  And that in itself was a huge relieve to me.  I am the only known carrier in my family, and genetically speaking, it's come to an end.  That is also a sense of relieve for me. 



Jeanne Dorais MacKenzie said:

Hello Donna, it's a pleasure to meet you.

Thank you for the reply.  Means a great deal to me.  I'm sorry to hear about your son, and your carrier status.  I feel a bit selfish worrying about my symptoms when so many others have it much harder.

You had mentioned you ck or cpk levels are normal as well.  If you don't mind me asking, how old were you when you were tested as a carrier?  Also curious of how old you are now, a bit younger than me i gather. I remember reading that mine were elevated at 18 months old and then again when i was genetically tested as a pre-teen. And now, normal - i mean, right in the middle of the range of normal too.  Because of that, my neurologist said he didn't think my symptoms were related.  Then again, i'm not sure if he's all that well acquainted with BMD.  According to Ann's reply to me, those levels reduce as you get older.

Do you have any other family history of BMD other than your son?

I'm sorry that my reply's are so long and still full of questions.  The more i learn, the more i want to learn.

You will now be in my thoughts and prayers,

Jeanne


Donna Cicardo said:

Hi Jeanne,

I am also a carrier of BMD.  I found out after my son was diagnosed with BMD/DMD.  This is not new.  I think the problem is a lot of older family doctors and even newer doctors today do NOT really know about Duchenne or Beckers.  When my son was about 4 years old he was falling, his Pre-K teacher said he cld not jump, hop or run like children his age.  Well we went to 4 doctors who told us anything from his potassium is probably low, he has growing pains, one leg is shorter than the other, and pretty much told us don't worry.  Well this went on for 3 years and finaly took him to a ortho doctor who referred us to a neurologist.  Well the neurologist knew before doing any testing that it was Beckers.  Well he had testing and they told me since he had BMD I may be a carrier.  Well I did my dna testing and I am a carrier.  I think you should see a DMD doctor, usually a neurologist who specializes in movement disorders, you can go to MDA website and it will direct you to a local MDA physician in your area.  manifesting carriers are not anywhere close to DMD.  I have had weakness but nothing where i am unable to walk or any of the symptoms my son had or any other DMD patient.  i do notice that stairs are really hard for me.  I can go up one flight and be completely out of breath, legs burn with weakness and I do notice from a crouched positoin to a standing position I have to really push off my thighs to get up or hold onto something next to me.  As far as your CK levels goes, mine is normal.  it really from what I know only is elevated if you are a boy with DMD.   but my neurologist says there have been reports of some women carriers having some symptoms of muscle weakness but not like the boys.  yes there is a chance you could have passed the defaulty gene to your son or your daughter.  my daughter is 13 and we have not had her tested.  the doctors tell us not to test her because she will have preexisting but the genetics doctor say to test her.  We are going to wait until she is ready to decide to have children when she is an adult.  What I have been told is that carriers of DMD/BMD may have enlarged heart issues later in their 40s and beyond.  This is the major problem/concern for carriers.  I was told I should have an ekg, echo, stress test every year after I reach age 40.  I have had two so far adn everything is okay.  if you look on PPMD site and MDA sites you will find alot of info.  I hope this helps but let me know if you have any more questions. 

Hi Jeanne,

Thanks for providing more information.  I am glad to hear that you and your father and uncles had genetic testing that confirmed Becker MD.  In terms of finding these old records, it may be difficult given that the testing was done over 20 years ago.  You mentioned that the hospital is no longer open...is there another hospital in its place?  Some of the records may have been transferred to the new hospital.  I know that Genetics Depts often keep their records for a long time. If you remember the name of the doctor and/or genetic counselor who worked with you, I may be able to help.  Also, do you happen to remember the name of the lab that did the genetic testing?

Your symptoms do seem to fit with a manifesting carrier, but I encourage you to seek the opinion of a neurologist with experience in Duchenne/Becker.  And yes, symptoms can progress in manifesting carriers, just as in affected males, but usually at a much slower pace and with much less severity.

Please let me know if you have any other questions.

Best,

Ann
 
Jeanne Dorais MacKenzie said:

Hi Ann. 

Thank you for the information.

My father and his brothers were all genetically tested and outcome being Beckers.  I also was genetically tested as a preteen and the outcome being a carrier of Beckers.  My fathers course of the disease was a bit slower than my uncles and he walked (with severe gait) until he was 39, and lived to be 60.  From what i understand, and from the course my uncles took, this is a bit unusual. 

I've now read a few things from other women that are carriers and symptoms seem very similar.  I was always small and frail as a child and never very athletic and always tired.  As a teenager, i noticed that i wasn't as strong as most girls my age and was teased (by my brothers mostly) about the way i ran.  I've had trouble with hip pain and weakness since a junior in high school.  But none of that was ever too troublesome.  It wasn't until i was about 35 or 36 that i started having (or noticed) much more difficulty with my coordination and strength along with muscle pain and cramping.  I would explain the cramping as severe "charlie horses" and the pain like the burning pain a person might have after an extreme workout.  Now, i struggle with even a gallon of milk most of the time.  I catch myself putting my hand on my knee to climb stairs to strengthen my leg - I recently had a memory flash of my father doing the same thing when he was still walking.  Of course, my issues can hardly compare to what he experienced. 

Is it common place for a manifesting carrier to have symptoms that progress?

I have lost all of the medical information i had years ago.  Is there someway to look up medical files from decades ago?  I know that the hospital that did the testing while i was pregnant with my children is no longer in existence.  That would be the most recent testing and my children are now 23 and 21 years old.

I know that even if the symptoms I'm have are in fact related to BMD there really is nothing that can be done, but i would feel better knowing what it is.

Again, Thank you.

Ann Martin said:

Hello Jeanne,

I work at PPMD and I am a genetic counselor and the coordinator of the DuchenneConnect Registry.  I am happy to answer your questions: 

1.  There have always been a small percentage of DBMD carriers who are manifesting carriers, but most people (including many healthcare providers and physicians) are not aware of this.  The majority of carriers are just that...they carry the gene but have no symptoms.  But, we are now finding that more female carriers have symptoms than we previously thought, especially the cardiac complications (cardiomyopathy).

2.  CK levels can normalize over time, so it is not that unusual that your CK levels are in the normal range now.  Have you had genetic testing to confirm that you are a carrier of BMD?  If your father definitely had Becker, then you would be an obligate carrier.  However, in the past some men were incorrectly diagnosed with Becker when they really had another type of muscular dystrophy, such as limb girdle.  If no one in your family ever had genetic (DNA) testing to confirm the diagnosis of Becker, you should consider having this done.    

3.  Yes, you should definitely see a doctor that specializes in muscular dystrophy.  I would recommend seeing a neurologist who specializes in DBMD.  The neurologist could also order genetic testing for you, if needed.  You should also see a cardiologist (a heart specialist).  These doctors should not be hard to find if you live near a big city.  If you need help locating specialists, let us know. 

4.  Yes, the symptoms would be the same...muscle weakness, fatigue and cramping, and cardiomyopathy.

Let me know if you have any other questions!

Best regards,

Ann Martin, MS, CGC

 

Hi Ann,

Thanks again.  The hospital that i had CVS testing done with both my children was Grace Hospital in Detroit, MI.   The Doctor's name that did the procedure is Mary Ellen Quigg - she had actually been able to receive a donation to do the testing from "Crippled Children's Fund" not sure if that was a separate charity organization or a part of the hospital's programs.  At that time, my last name was Langer. The test for my daughter would have been done in 1988 and the one for my son in 1990. 

There was a hospital in Madison Heights, MI that i believe did my genetic testing.  Pretty sure that my Dad's Dr. was affiliated with it.  Anyway, charts there would have been in my maiden name - Dorais. 

I guess i need to do some research on the names and exact hospitals.  Have to get back with you.

Thanks again.

Ann Martin said:

Hi Jeanne,

Thanks for providing more information.  I am glad to hear that you and your father and uncles had genetic testing that confirmed Becker MD.  In terms of finding these old records, it may be difficult given that the testing was done over 20 years ago.  You mentioned that the hospital is no longer open...is there another hospital in its place?  Some of the records may have been transferred to the new hospital.  I know that Genetics Depts often keep their records for a long time. If you remember the name of the doctor and/or genetic counselor who worked with you, I may be able to help.  Also, do you happen to remember the name of the lab that did the genetic testing?

Your symptoms do seem to fit with a manifesting carrier, but I encourage you to seek the opinion of a neurologist with experience in Duchenne/Becker.  And yes, symptoms can progress in manifesting carriers, just as in affected males, but usually at a much slower pace and with much less severity.

Please let me know if you have any other questions.

Best,

Ann
 
Jeanne Dorais MacKenzie said:

Hi Ann. 

Thank you for the information.

My father and his brothers were all genetically tested and outcome being Beckers.  I also was genetically tested as a preteen and the outcome being a carrier of Beckers.  My fathers course of the disease was a bit slower than my uncles and he walked (with severe gait) until he was 39, and lived to be 60.  From what i understand, and from the course my uncles took, this is a bit unusual. 

I've now read a few things from other women that are carriers and symptoms seem very similar.  I was always small and frail as a child and never very athletic and always tired.  As a teenager, i noticed that i wasn't as strong as most girls my age and was teased (by my brothers mostly) about the way i ran.  I've had trouble with hip pain and weakness since a junior in high school.  But none of that was ever too troublesome.  It wasn't until i was about 35 or 36 that i started having (or noticed) much more difficulty with my coordination and strength along with muscle pain and cramping.  I would explain the cramping as severe "charlie horses" and the pain like the burning pain a person might have after an extreme workout.  Now, i struggle with even a gallon of milk most of the time.  I catch myself putting my hand on my knee to climb stairs to strengthen my leg - I recently had a memory flash of my father doing the same thing when he was still walking.  Of course, my issues can hardly compare to what he experienced. 

Is it common place for a manifesting carrier to have symptoms that progress?

I have lost all of the medical information i had years ago.  Is there someway to look up medical files from decades ago?  I know that the hospital that did the testing while i was pregnant with my children is no longer in existence.  That would be the most recent testing and my children are now 23 and 21 years old.

I know that even if the symptoms I'm have are in fact related to BMD there really is nothing that can be done, but i would feel better knowing what it is.

Again, Thank you.

Ann Martin said:

Hello Jeanne,

I work at PPMD and I am a genetic counselor and the coordinator of the DuchenneConnect Registry.  I am happy to answer your questions: 

1.  There have always been a small percentage of DBMD carriers who are manifesting carriers, but most people (including many healthcare providers and physicians) are not aware of this.  The majority of carriers are just that...they carry the gene but have no symptoms.  But, we are now finding that more female carriers have symptoms than we previously thought, especially the cardiac complications (cardiomyopathy).

2.  CK levels can normalize over time, so it is not that unusual that your CK levels are in the normal range now.  Have you had genetic testing to confirm that you are a carrier of BMD?  If your father definitely had Becker, then you would be an obligate carrier.  However, in the past some men were incorrectly diagnosed with Becker when they really had another type of muscular dystrophy, such as limb girdle.  If no one in your family ever had genetic (DNA) testing to confirm the diagnosis of Becker, you should consider having this done.    

3.  Yes, you should definitely see a doctor that specializes in muscular dystrophy.  I would recommend seeing a neurologist who specializes in DBMD.  The neurologist could also order genetic testing for you, if needed.  You should also see a cardiologist (a heart specialist).  These doctors should not be hard to find if you live near a big city.  If you need help locating specialists, let us know. 

4.  Yes, the symptoms would be the same...muscle weakness, fatigue and cramping, and cardiomyopathy.

Let me know if you have any other questions!

Best regards,

Ann Martin, MS, CGC

 

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