Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant

Article type: Research Article

Authors: Ashton, Catherine^{a; *} | Davis, Mark^b | Needham, Merrilee^c | Lamont, Phillipa^d

Affiliations: [a] Department of Neurology, Royal Perth Hospital, Perth, WA, Australia | [b] Neurogenetics Unit, Department of Diagnostic Genomics, PathWest, Nedlands, WA, Australia | [c] Department of Neurology, Fiona Stanley Hospital, Murdoch, WA, Australia | [d] Department of Neurogenetics, Royal Perth Hospital, Perth, WA, Australia

Correspondence: [*] Correspondence to: Catherine Ashton, Department of Neurology, Royal Perth Hospital, Perth, WA, Australia. E-mail: catherine.ashton@health.wa.gov.au.

Abstract: A 38-year-old pregnant woman presented at 30 weeks gestation in respiratory distress with pre-eclampsia. This was on the background of slowly progressive dyspnoea over six years, with generalised weakness and previous surgery for ptosis and prognathia. After successful caesarean delivery at 31 weeks, the patient was found to have a homozygous likely pathogenic variant in the MYOD1 gene. This case presents a milder phenotype for MYOD1 congenital myopathy, usually associated with diaphragmatic defects, respiratory insufficiency and dysmorphic facies. It also highlights the difficulties of managing an undiagnosed patient through pregnancy.

Keywords: Myopathy, respiratory insufficiency, muscular disease, congenital myopathy

DOI: 10.3233/JND-210782

Journal: Journal of Neuromuscular Diseases, vol. 9, no. 5, pp. 615-618, 2022