| Compton-North congenital myopathy | |
| Synonyms: | Myopathy, congenital, Compton-North, MYPCN (abbr.)[1] |
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Compton-North congenital myopathy, also known as congenital lethal myopathy, Compton-North type, is a rare, fatal genetic disorder of pre-natal onset that results in death shortly after birth and is characterized by fetal akinesia and movement restriction, polyhydramnios, severe hypotonia of neonatal-onset, generalized weakness of the respiratory, bulbar, and skeletal muscles, presence of multiple congenital muscular contractures.[2]
Additional features include premature birth, low birth weight, failure to thrive, abnormal reflexes, scaphocephaly, hypertelorbitism, oval-shaped face, small hands, single transverse palmar crease, high-arched palate, arachnodactyly, and camptodactyly (causing overlapping fingers). Ultrastructural findings include sarcomeric disruptions, Z-band disorganization, and an absence of integrin alpha7, beta2-syntrophin, alpha-dystrobrevin.[3] Only four infants from a heavily consanguineous Egyptian Australian family have been described in the medical literature,[4] and it is caused by homozygous mutations in the CNTN1 gene, located in chromosome 12.[5] [6]
The condition wasn't named after the doctors who first discovered the condition, but rather the doctors who first described it in detail: Dr. Alison G. Compton and Dr. Kathryn N. North.