This is the conclusion of an article by a Turkish team which reviewed the records of eleven patients with congenital myasthenic syndrome presenting with scoliosis:
- the mean age was 5.78 ± 3.27 years and the mean age at diagnosis was 3.55 ± 2.93 years;
- seven children had a mutation in the COLQ gene, two in the CHAT gene, one in the RASPN gene and one in the DOK7 gene;
- of the eight children who had an electromyogram, one had no abnormality, while the other seven had a decrement;
- all the children had ptosis and six had bulbar signs;
- apart from attacks, the respiratory function of ten children was normal, while the eleventh was on permanent assisted ventilation;
- two children, one with a mutation in the CHAT gene, the other in the RASPN gene, had arthrogryposis.
