michigani
08-07-2008, 03:41 PM
I'm plunging back into my own research again after taking a couple of years off. I'm wondering who, like me, inherited their MD from a parent or grandparent or has another relative with the condition. I seem to be in the minority, inasmuch as I had a father with Limb-Girdle and now I have the exact same symptoms. Mine is almost certainly Dominant unless by some incredible chance my mom is an unsuspecting carrier thus giving me a recessive form of MD.
I've had this need to be proactive in my diagnosis and treatment. It makes me feel like I'm doing something.
I've had this need to be proactive in my diagnosis and treatment. It makes me feel like I'm doing something.
Sponsor
CJs Mom
08-07-2008, 11:11 PM
Hey Mark,
Neither my husband or I have a family history of MD, so this is all brand new to us with Caleb, but I understand where you're coming from trying to get all the information possible. We are currently trying to get Caleb into a LGMD Characterization Study to determine exactly which type LGMD he has, and it is open to all age groups. If we get into this study it will be a very long trip for us, but, like you said, at least I feel like I'm doing something which may help in some way!
have a great one!
Lori
Neither my husband or I have a family history of MD, so this is all brand new to us with Caleb, but I understand where you're coming from trying to get all the information possible. We are currently trying to get Caleb into a LGMD Characterization Study to determine exactly which type LGMD he has, and it is open to all age groups. If we get into this study it will be a very long trip for us, but, like you said, at least I feel like I'm doing something which may help in some way!
have a great one!
Lori
Madalot
08-08-2008, 09:37 AM
Mark -- an interesting question you pose here.
For me, my father was diagnosed with Myasthenia Gravis in the late 1970's. His main problem was his eyes. He was on the standard medications for MG and for the most part, had his symptoms under control until his death in 2000. He died from respiratory failure that was attributed to a side effect of a heart medication. We'll never know for sure at this point though.
My mother was never diagnosed with anything, but I am convinced she had something wrong (whether it was an MD or not I don't know). She was a very active woman until her late 30's/early 40's when she suddenly became very weak and tired all the time. She stopped doing most of her activities and stayed home most of the time. If she did go out and needed to walk, she became very tired almost immediately and had to stop and rest a lot. Like I said -- she was never diagnosed but it seems like she may have had some kind MD. Unfortunately, she died in 1987 so there's no way to find out.
For me, my father was diagnosed with Myasthenia Gravis in the late 1970's. His main problem was his eyes. He was on the standard medications for MG and for the most part, had his symptoms under control until his death in 2000. He died from respiratory failure that was attributed to a side effect of a heart medication. We'll never know for sure at this point though.
My mother was never diagnosed with anything, but I am convinced she had something wrong (whether it was an MD or not I don't know). She was a very active woman until her late 30's/early 40's when she suddenly became very weak and tired all the time. She stopped doing most of her activities and stayed home most of the time. If she did go out and needed to walk, she became very tired almost immediately and had to stop and rest a lot. Like I said -- she was never diagnosed but it seems like she may have had some kind MD. Unfortunately, she died in 1987 so there's no way to find out.
nodakr144
08-10-2008, 02:02 PM
Neither of my parents nor anyone in the immediate family has muscular dystrophy. I participated in the LGMD characterization study a couple of years ago, and my parents were also tested as part of the study. I have LGMD2E, which is an autosomal recessive form of LGMD, and my parents are both carriers. If you haven't checked into the characterization study, I would encourage you to do so. More information can be found at www.clinicaltrials.gov.
michigani
08-12-2008, 09:06 PM
Neither of my parents nor anyone in the immediate family has muscular dystrophy. I participated in the LGMD characterization study a couple of years ago, and my parents were also tested as part of the study. I have LGMD2E, which is an autosomal recessive form of LGMD, and my parents are both carriers. If you haven't checked into the characterization study, I would encourage you to do so. More information can be found at www.clinicaltrials.gov.
Thanks. I've done EXTENSIVE testing and studying on my own as well. I participated in the NIH MD study in Washington in 2005. Spent months tracing my family tree back (10 generations to the late 1700's) and found no evidence.....only my dad. (Many of my forefathers lived to be very old men). I appreciate the ideas though.
Mark
Thanks. I've done EXTENSIVE testing and studying on my own as well. I participated in the NIH MD study in Washington in 2005. Spent months tracing my family tree back (10 generations to the late 1700's) and found no evidence.....only my dad. (Many of my forefathers lived to be very old men). I appreciate the ideas though.
Mark
SHANTACLARE61
08-15-2008, 04:08 PM
My mom is supposed to come to my next visit (Sept.) to see if she possibly has it. Her only possible symptom is shoulder pain. She can practicly run up stairs. And looking back no one on either side had any signs.
COLOGAL
09-09-2008, 12:34 PM
My Father Also Had Lgmd, His Brother And His Brothers Son (my Cousin).all Of Us (including Myself) First Noticed Muscle Weakness In Our Early To Mid Forties. When I First Suspected I Had It Also I Tracked Down The Medical Records On My Father And Cousin. All Of My Relitives With Lgmd Died Before I Suspected I Had It. Wish I Knew While They Where Alive, I Have Alot Of Questions For Them Now.
michigani
09-09-2008, 03:14 PM
Cologayle, I hope this advice helps. I won't guarantee this but I would strongly suspect a Dominant Inheritance strain of Limb-Girdle. That is, one of the type "1" LGMDs. Look into LGMD1A - LGMD1G. You may find some similar traits to your own. I have a huge database of symptoms, inheritance, onset age, muscles affected and lots of other information which I compiled over the past 3 years. If I can figure out how to export my data to text I may be able to post a bit of it here. Keep watching this thread, I'll see what I can do. I'd like to share it without breaking the rules of anonymity.
Update: Here's my LGMD data: (Note that only 3 dominant mutations have been identified to date)
LGMD Type / Inheritance / Mutation / Gene Location / Onset Age / CK / Muscles Affected
Limb-Girdle Type 1A / DOM / Myotilin / 5q31.2 / 20-40 yrs / 1-15X / Legs, Distal or Proximal
Limb-Girdle Type 1B / DOM / Lamin A/C / 1q11-21 / <20 yrs / Slight / Quadriceps - Upper limbs later
Limb-Girdle Type 1C / DOM / Caveolin-3 / 3p25 / Childhood / 4-25X / Hips & Shoulders
Limb-Girdle Type 1D / DOM / Unknown / 6q or 7q / 38 yrs / 1-3X / Prox > Distal , Legs > Arms
Limb-Girdle Type 1E / DOM / Unknown / 6q22 / 9-49 yrs / 2-4X Proximal, no face
Limb-Girdle Type 1F / DOM / Unknown / 7q31.1 / 1-58 yrs / 1-20X / Proximal Legs & Distal
Limb-Girdle Type 1G / DOM / Unknown / 4p21 / 30-47 yrs / 1-9X / Proximal Lower Limb
Limb-Girdle Type 2A / REC / Calpain-3 / 15q15 / 2-40 yrs / 7-80X / Hips & Abdomin > Upper
Limb-Girdle Type 2B / REC / Dysferlin / 2p13.1 / 12-39 yrs / 10-72X / Proximal
Limb-Girdle Type 2C / REC / y-Sarcoglycan / 13q12 / Childhood / No Data / No Data
Limb-Girdle Type 2D / REC / a-Sarcoglycan / 17q21 / 2-15 yrs / >5000 / Quadriceps, Shoulders, Rare
Limb-Girdle Type 2E / REC / b-Sarcoglycan / 4q12 / <3-15 yrs / >5000 / Calves, Shoulders
Limb-Girdle Type 2F / REC / d-Sarcoglycan / 5q33 / 2-10 yrs / 10-50X / Calves
Limb-Girdle Type 2G / REC / Telethonin / 17q11-12 / 9-15 yrs / 3-30X / Proximal & Anterior Distal
Limb-Girdle Type 2H / REC / TRIM32 / 9q31-33 / 8-27 yrs / <4500 / Face & Shoulders
Limb-Girdle Type 2I / REC / Fukutin / 19q13.3 / 2-27 yrs / <5700 / Prox > Distal , Legs, Arms
Limb-Girdle Type 2J / REC / Titin / 2q31 / <10-30 yrs / High / Prox > Distal, tibialis, no face
Limb-Girdle Type 2K / REC / POMT1 / 9q34 / 10 yrs / 9-40X / Proximal
Update: Here's my LGMD data: (Note that only 3 dominant mutations have been identified to date)
LGMD Type / Inheritance / Mutation / Gene Location / Onset Age / CK / Muscles Affected
Limb-Girdle Type 1A / DOM / Myotilin / 5q31.2 / 20-40 yrs / 1-15X / Legs, Distal or Proximal
Limb-Girdle Type 1B / DOM / Lamin A/C / 1q11-21 / <20 yrs / Slight / Quadriceps - Upper limbs later
Limb-Girdle Type 1C / DOM / Caveolin-3 / 3p25 / Childhood / 4-25X / Hips & Shoulders
Limb-Girdle Type 1D / DOM / Unknown / 6q or 7q / 38 yrs / 1-3X / Prox > Distal , Legs > Arms
Limb-Girdle Type 1E / DOM / Unknown / 6q22 / 9-49 yrs / 2-4X Proximal, no face
Limb-Girdle Type 1F / DOM / Unknown / 7q31.1 / 1-58 yrs / 1-20X / Proximal Legs & Distal
Limb-Girdle Type 1G / DOM / Unknown / 4p21 / 30-47 yrs / 1-9X / Proximal Lower Limb
Limb-Girdle Type 2A / REC / Calpain-3 / 15q15 / 2-40 yrs / 7-80X / Hips & Abdomin > Upper
Limb-Girdle Type 2B / REC / Dysferlin / 2p13.1 / 12-39 yrs / 10-72X / Proximal
Limb-Girdle Type 2C / REC / y-Sarcoglycan / 13q12 / Childhood / No Data / No Data
Limb-Girdle Type 2D / REC / a-Sarcoglycan / 17q21 / 2-15 yrs / >5000 / Quadriceps, Shoulders, Rare
Limb-Girdle Type 2E / REC / b-Sarcoglycan / 4q12 / <3-15 yrs / >5000 / Calves, Shoulders
Limb-Girdle Type 2F / REC / d-Sarcoglycan / 5q33 / 2-10 yrs / 10-50X / Calves
Limb-Girdle Type 2G / REC / Telethonin / 17q11-12 / 9-15 yrs / 3-30X / Proximal & Anterior Distal
Limb-Girdle Type 2H / REC / TRIM32 / 9q31-33 / 8-27 yrs / <4500 / Face & Shoulders
Limb-Girdle Type 2I / REC / Fukutin / 19q13.3 / 2-27 yrs / <5700 / Prox > Distal , Legs, Arms
Limb-Girdle Type 2J / REC / Titin / 2q31 / <10-30 yrs / High / Prox > Distal, tibialis, no face
Limb-Girdle Type 2K / REC / POMT1 / 9q34 / 10 yrs / 9-40X / Proximal
casinogal
09-11-2008, 10:53 AM
I'm plunging back into my own research again after taking a couple of years off. I'm wondering who, like me, inherited their MD from a parent or grandparent or has another relative with the condition. I seem to be in the minority, inasmuch as I had a father with Limb-Girdle and now I have the exact same symptoms. Mine is almost certainly Dominant unless by some incredible chance my mom is an unsuspecting carrier thus giving me a recessive form of MD.
I've had this need to be proactive in my diagnosis and treatment. It makes me feel like I'm doing something.
Hello, I have just been diagnosed with Limb Girdle MD. Like you, I inherited it from one parent, my mother. She inherited it from her father. What is odd though is that she is the only one in a family of six to inherit it from her father and I am the only grandchild to have it. I wonder if that means that if it skips one generation like my aunts and uncles then it is not passed any further to their families. Not too much info on it and apparently not too much research or look for a cure. We should follow-up on this board as to our symptoms and progression. Let's hope for a treatment in the near future
I've had this need to be proactive in my diagnosis and treatment. It makes me feel like I'm doing something.
Hello, I have just been diagnosed with Limb Girdle MD. Like you, I inherited it from one parent, my mother. She inherited it from her father. What is odd though is that she is the only one in a family of six to inherit it from her father and I am the only grandchild to have it. I wonder if that means that if it skips one generation like my aunts and uncles then it is not passed any further to their families. Not too much info on it and apparently not too much research or look for a cure. We should follow-up on this board as to our symptoms and progression. Let's hope for a treatment in the near future
fishing911
09-14-2008, 08:51 PM
None of my parents had MD. Of course, I got the gene passed on to me from my mother. But there is no family history on either side of anyone of ever having MD. My sister got tested and she was found to be a carrier.
I have a 15 month old son and even though I know I couldn't pass it on to him, I still wonder some times. He is healthy and started walking 2 months ago and seems to have normal muscle strength, but I still sometimes wonder when I see him stumble. I know it is just him learning to walk, but it still makes you think.
I have a 15 month old son and even though I know I couldn't pass it on to him, I still wonder some times. He is healthy and started walking 2 months ago and seems to have normal muscle strength, but I still sometimes wonder when I see him stumble. I know it is just him learning to walk, but it still makes you think.
michigani
09-15-2008, 11:15 AM
This is a really good exampale of how an X-linked disease is inherited. Almost always the child gets it from his or her mother (not the mom's fault of course). Boys get a bad X and a good Y. The bad X causes the disease 50% of the time. Girls get a bad X and a good X. The good X does enough work to keep the girl generally healthy but she will be a carrier. Here's a great picture:
http://www.ikm.jmu.edu/Buttsjl/ISAT493/X-linked/inheritance.html
Hope it helps.
http://www.ikm.jmu.edu/Buttsjl/ISAT493/X-linked/inheritance.html
Hope it helps.
SHANTACLARE61
09-25-2008, 02:21 PM
My Father Also Had Lgmd, His Brother And His Brothers Son (my Cousin).all Of Us (including Myself) First Noticed Muscle Weakness In Our Early To Mid Forties. When I First Suspected I Had It Also I Tracked Down The Medical Records On My Father And Cousin. All Of My Relitives With Lgmd Died Before I Suspected I Had It. Wish I Knew While They Where Alive, I Have Alot Of Questions For Them Now.
I have no known relative with MD.
I'm 47 and my doctors tell me that I have Bethlem Myopathy which, in my case affects my limb-girdle muscles but isn't really considered LGMD:confused: plus I don't have any contractures which is most common in BM.
Were your dads, uncles and cousins symptoms similar in severity and progression?
What are your symptoms and in what ways have you noticed your progression?
Do you have any contractures?
I have no known relative with MD.
I'm 47 and my doctors tell me that I have Bethlem Myopathy which, in my case affects my limb-girdle muscles but isn't really considered LGMD:confused: plus I don't have any contractures which is most common in BM.
Were your dads, uncles and cousins symptoms similar in severity and progression?
What are your symptoms and in what ways have you noticed your progression?
Do you have any contractures?
COLOGAL
09-25-2008, 04:14 PM
My Father And Uncles Symtoms And Progression Were Identical To Mine. Unfortunaly They Were Killed Together In A Private Plane Crash In 1970 (they Were In There Late 40's At The Time). So I Never Got To See It Play Out. My Cousins Symptoms Started Out The Same. But With In 13 Years Of His Diagnosis, He Died From Complications Of His Lgmd ( Heart And Respritory Problems). His Last Three Years Were Miserable. His Widow Told Me To Do Everything I Want To Now While I Still Can. She Said "as This Took Hold Of Of Him, It Distroyed Him". Scary, Scary Stuff ! Growing Up I Was Told By My Mother ( Now Deceased ) Could Never Get It And There Was No Risk Of Me Passing It On. Soo....... I Was Lied To And By The Time I Was Suspisous, It Was To Late To Ask Questions.
In My Early 40's After Being Extremely Active All Of My Life, I Noticed Weakness In My Legs, Had Trouble With Stairs And Rising From A Sitting Posistion, Fatigue, And An Over All "slug" Feeling. Near The Time Of My Period, My Pelvic Area Hurt So Bad I Went And Saw My Obygn ( He Found Nothing Wrong). I Started Limping And Told Every One Including My Husband I Had A "bad Knee". After Requesting My Dads Med Records And Doing A Little "on Line" I Discovered Lgmd Is Not Gender Specific. A Couple Of Years Later As It Got Worse And After Trying Diet Changes,vitiams,every Thing I Could Think Of, I Went To My Gp (with My Fathers Records In Hand And Begged Him To Find A Thyroid Problem Or Blood Disorder. He Didn't.
I Am One Of Three Siblings And The Only One Affected (unknow If My Nephews Will Have It).
My Father And Uncle Were Two Out Of Three Affected. My Uncle Had Two Children The Only One Affected Was The Cousin I Speak Of. My Other "unaffected" Uncle Has Two Unaffected Children.( Unknow If They Can Pass It On To Their Offspring). Sorry So Lengthy, Hope This Answers Those ?'s For You. I HAVE TWO BIOLOGICAL SONS AND IT IS UNKNOW IF THEY WILL BE AFFECTED. MY DR SAID IT WILL BE A WAIT AND SEE WITH THEM.
In My Early 40's After Being Extremely Active All Of My Life, I Noticed Weakness In My Legs, Had Trouble With Stairs And Rising From A Sitting Posistion, Fatigue, And An Over All "slug" Feeling. Near The Time Of My Period, My Pelvic Area Hurt So Bad I Went And Saw My Obygn ( He Found Nothing Wrong). I Started Limping And Told Every One Including My Husband I Had A "bad Knee". After Requesting My Dads Med Records And Doing A Little "on Line" I Discovered Lgmd Is Not Gender Specific. A Couple Of Years Later As It Got Worse And After Trying Diet Changes,vitiams,every Thing I Could Think Of, I Went To My Gp (with My Fathers Records In Hand And Begged Him To Find A Thyroid Problem Or Blood Disorder. He Didn't.
I Am One Of Three Siblings And The Only One Affected (unknow If My Nephews Will Have It).
My Father And Uncle Were Two Out Of Three Affected. My Uncle Had Two Children The Only One Affected Was The Cousin I Speak Of. My Other "unaffected" Uncle Has Two Unaffected Children.( Unknow If They Can Pass It On To Their Offspring). Sorry So Lengthy, Hope This Answers Those ?'s For You. I HAVE TWO BIOLOGICAL SONS AND IT IS UNKNOW IF THEY WILL BE AFFECTED. MY DR SAID IT WILL BE A WAIT AND SEE WITH THEM.
COLOGAL
09-25-2008, 04:22 PM
Sorry, I Forgot To Comment On The Contractures. Although I'm Not As "bendy" As I Use To Be, I Have Never Heard The Doctors Use The Word "contracture". I Actually Just Had To Google The Word. So, I Would Say "no, I Don't Think I Have Contractures".
Gayle
Gayle