Myostatin-related muscle hypertrophy is an inherited rare muscle disorder characterized by reduced subcutaneous fat pad thickness and increased muscle size with normal or increased muscular strength. Clinical symptoms depend on the amount of myostatin protein present. Some people are prevented from producing myostatin due to a mutation in the GDF8 gene.
Myostatin-related muscle hypertrophy also known as muscle enlargement was first discovered in the late 1990s in beef cattle and mice. A German boy was diagnosed with it in 2000. However, it is so rare that doctors don’t know how many people have it.
Without normal body fat a child’s growth can be stunted, the central nervous system can be impaired, and learning can be affected. However, the condition itself is not known to cause medical complications.
The condition is diagnosed by measuring skeletal muscle size by ultrasound examination, DEXA, or MRI. Subcutaneous fat pad thickness is also measured by ultrasound or with a caliper. Molecular genetic testing for the only gene known to be connected with myostatin-related muscle hypertrophy, GDF8, is only available for research.
A toddler in Michigan has received quite a bit of press because of his recent diagnosis with this condition. His parents say that at nineteen months old he can do inverted sit ups, and has an impressive six-pack.
He was born with a small hole in his heart, eczema, enlarged kidneys, lactose intolerance, and severe reflux. Lucky for him, his adoptive daddy is a physician assistant. When he wasn’t gaining weight properly, they were able to find out why. He has Myostatin-related muscle hypertrophy of the leg, calf, and arm muscles, and he has increased strength.
Scientists will be beginning a research study on this disorder that they hope will lead to new treatments for debilitating ailments, which cause the muscles deteriorate, such as muscular dystrophy. The Michigan toddler will not be taking part in the research as scientist were able to locate enough adults with this condition.
Something that really bothers me, in all the articles I read about this toddler, is the information shared about his background. Faith, over at the hoping to adopt blog, has been doing a series on adoption privacy. She spoke of information shared coming back to haunt you when your child is older. Family members and others can have negative thoughts about your child’s birth family and can share that information with your child, without your consent.
The entire world now knows about this child’s adoption history. I also found the wording they used to describe his adoption abhorrent. They need a few lessons from Jenna, at the birth-first blog.
The article from the associated press says, “The product of a troubled mother who gave him up for adoption at birth…” PRODUCT, gee, I thought he was a child! GAVE HIM UP FOR ADOPTION, does this mean she just dumped him off somewhere. I’ll assume that she spent months reaching her decision to place her son and probably agonized over choosing the best family. What a slap in the face.
Some related blogs
About G-tube Feeding
Pediatric GERD
Child’s Privacy: Control over When to Tell
Newsflash: She IS My Daughter