Duchenne Muscular Dystrophy (DMD)

Hi, my name is Jaclyn and my oldest son Jimmy (age 10)has a genetic disorder called Duchenne Muscular Dystrophy or DMD for short.

Definition:
Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, only males are afflicted, though females can be carriers. The disorder is caused by a mutation in the gene DMD, located in humans on the X chromosome (Xp21). The DMD gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane.
Symptoms usually appear in male children before age 6 and may be visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy (enlargement of calf muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aid in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD varies from early teens to age mid 30s. There have been reports of DMD patients surviving past the age of 40 and even 50 but, it is very rare.

Quoting Mother of 3...soon to be:“ Hi, my name is Jaclyn and my oldest son Jimmy (age 10)has a genetic disorder called Duchenne Muscular ... [snip!] ... teens to age mid 30s. There have been reports of DMD patients surviving past the age of 40 and even 50 but, it is very rare.”

I was just ina thread and a girl mentioned this!

My brother has this and will be 21 in February. Its a very hard disease to coat with.

Oh lol...nevermind it was you. I had a duh moment!!

I'm so sorry your family is having to cope with this, my step-brother passed away in 2005 of this, he was 34. If you ever need someone to talk to, feel free to PM me.

My uncle had this (not that i got to meet him)
Im so sorry.
They do live longer these days than back in his day, unfortunately he passed away at 16 but i have known of people who have lived to their 30's... even that is too young.

A friend of mine who's husband is in the military, has two boys. Both were just diagnosed with DMD. She is having a very hard time dealing with it. She is doing much better but it's such and awful disease. I'm so sorry to see that you are having to deal with this as well.  

Quoting Mother of 3...soon to be:“ Hi, my name is Jaclyn and my oldest son Jimmy (age 10)has a genetic disorder called Duchenne Muscular ... [snip!] ... teens to age mid 30s. There have been reports of DMD patients surviving past the age of 40 and even 50 but, it is very rare.”

have any other males in your family got it??

Quoting Victoria ♥ Tayla:“ have any other males in your family got it??”

No my son is the first and only male in my family that has it BUT, Iam the first in my family to be a carrier of DMD, my daughter is the second so, the mutation started with me. My youngest son David does not have the disorder though and I will be having a amnio done Thursday to see if the baby I'm pregnant with now has it but, I won't get those results back for 6 weeks.

Quoting Boa's Mom SAHM 09:“ A friend of mine who's husband is in the military, has two boys. Both were just diagnosed with DMD. She ... [snip!] ... She is doing much better but it's such and awful disease. I'm so sorry to see that you are having to deal with this as well.  ”

I know how she feels, I was devastated when I found out. If she needs anyone to talk to just tell her she can message me anytime she needs to talk.

Quoting Mother of 3...soon to be:“ No my son is the first and only male in my family that has it BUT, Iam the first in my family to be ... [snip!] ... having a amnio done Thursday to see if the baby I'm pregnant with now has it but, I won't get those results back for 6 weeks.”

good luck!
my uncle was the one and only male in our family to have it and no females are carriers. unfortunately it was a rogue gene that caused my uncle to get it.

Quoting Victoria ♥ Tayla:“ good luck! my uncle was the one and only male in our family to have it and no females are carriers. unfortunately it was a rogue gene that caused my uncle to get it.”

Yea, that's called a spontanius(sorryif I spelled that wrong)mutation or at least that's what the genetic counselor told me, she said that's what caused me to be a carrier

You are a very strong woman to go through this.

For seven years I have worked for a man with Duchenne's Muscular Dystrophy. He lives on his own and is ventilated. He is now 41 years old. He is very positive and has a great attitude about life. He is an inspiration to me.