muscular dystrophy 101

Just the facts for you:

There are 42 types of MD. Mine is called Limb-Girdle type 2e. The 2 refers to the fact that I have a recessive gene defect, and the “e” simply means it was the 5th type of gene mutation discovered and catalogued.

Limb-Girdle (LGMD) is one of the milder forms of MD. This type can affect men or women, and symptoms such as walking on your toes, a waddling walk, enlarged calf muscles, and skeletal muscle weakness can occur in the teen years or later into adulthood. The general observation is the later you have symptoms, the more mild the disease progression. My symptoms began at age 12.

LGMD affects all skeletal muscles (large ones such as legs, lower back, and arms are weaker, small ones such as fingers, toes and my face muscles are almost normal).

LGMD also affects the heart and lungs. My lung function is below normal for a man of my age, as is my heart function. I take medication for both and a life-threatening risk for anyone with MD is complete loss of heart function as we age. It’s not impossible to live a quality life with decreased skeletal muscles, but obviously, we all need a heart. For almost a decade now my heart function has remained stable. Doctors cannot fully explain this, but it may be due to luck or a different mutation within my condition. No two people with MD have it the same…even if both people have the same type.

LGMD does not hurt unless my muscles are very fatigued due to overuse. Then I have aching and sore muscles, just like you.

There is nothing wrong with any nerves in my body, and therefore I have full sensation. Many people ask if I can feel my legs. The answer is yes.

Muscular Dystrophy is passed down from a family member 80% of the time. The other 20% is a spontaneous mutation of genetics when people have children. I’m in the 20%. I have researched my family tree back to the 1600’s and found nothing, however I do have ancestors that died young and medical causes hundreds of years ago were not widely reported, so it is possible that MD has been dormant in my family for generations.

My sister could have been a carrier of the gene that causes LGMD, but she is not.

On the most basic science level: MD is a protein deficiency in muscle cells. For reasons not fully understood (since work began to understand MD in the 1800’s), flaws in the gene’s DNA cause the muscle cells to stop producing proteins that bind muscle cells together.

My LGMD 2e protein deficiency is: Beta-sarcoglycan. If you want to nerd out, go HERE.

LGMD 2e has its marker located on Chromosome 4. We all have 2 pairs of each chromosome and both must be screwed up to cause MD. A doctor once told me that it’s like winning the lottery—only not as cool.

My type of MD is one in about 50,000 births.

LGMD may or may not shorten my lifespan. No one really knows and so I don’t worry about it. I may not die from it, but I’ll likely die with it.

Those are just the facts. I am always open to answering your questions. Drop me a line.

Stay safe, stay awesome, and stay tuned.