myostatin-related muscle hypertrophy

Myostatin-related muscle hypertrophy occurs as a result of a mutation within the MSTN gene, which disturbs the distribution of the myostatin protein. It causes an individual to experience abnormal muscle growth and reduced body fat.

Mayosatin was discovered in 1997 and was tested on Belgian Blue cattle and mice, but was not discovered as a disorder in humans until the birth of a German boy in 1999. Because of his lack of this protein, his muscles were twice as strong as children his age.

characteristics

• reduced subcutaneous fat pad thickness
• increased muscle size
• normal or increased muscle strength
• up to TWICE amount of usual muscle mass
• normal intellect and cardiac function

This condition is very rare with very few cases recorded.

signs & symptoms

• Individuals will have enlarged muscles & strength
• Intellect, bodily functions, & development will remain normal
• Evidence of this condition can be observed in infants
• Obvious muscle definition
• boosted metabolism creates a large appetite

This is Liam Hoekstra, who was able to stand with support by day two, do a pull up at 8 months, and could climb the stairs in both directions by 7 months.

belgian blue cow

average mouse vs. swole mouse

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TESTING PROCEDURES

To measure the skeletal muscle size, doctors will use ultrasound, MRI, or DEXA procedures. Molecular genetic testing can also be used to further investigate whether the gene is homozygous or heterozygous, which can effect the degree of severity within the individual.

diagnosis/prognosis:


This condition can be identified within the first few months of an infant's life. Walking and climbing prematurely compared to the standard for normal children are usual. However, they are expected to life normal, healthy lives.

http://ashlandhumanbio.blogspot.com/2011/11/rare-genetic-mutation-pro-or-co...
http://www.ncbi.nlm.nih.gov/books/NBK1498/
http://www.livestrong.com/article/386159-rapid-muscle-growth-disorder/