Amyoplasia congenita is a syndrome characterized by multiple specific congenital joint contractures, associated with substitution of muscular tissue by fibrosis and adipose tissue.
The estimated incidence is at 1: 10000 live births. There may be a higher prevalence with twin pregnancies 1.
The muscles are hypoplastic and replaced by a mixture of fat and fibrosis
It is throught to occur sporadically
The term a-myo-plasia essentially derives from the Latin meaning no-muscle-development
- 1. Bissonnette B, Dalens BJ. Syndromes, rapid recognition and perioperative implications. McGraw-Hill Professional. (2006) ISBN:0071354557. Read it at Google Books - Find it at Amazon
- 2. Kroksmark AK, Kimber E, Jerre R et-al. Muscle involvement and motor function in amyoplasia. Am. J. Med. Genet. A. 2006;140 (16): 1757-67. doi:10.1002/ajmg.a.31387 - Pubmed citation
- 3. Kulaylat NA, Narchi H, Tunnessen WW. Picture of the month. Amyoplasia congenita. Arch Pediatr Adolesc Med. 2001;155 (3): 407-8. Arch Pediatr Adolesc Med (link) - Pubmed citation