Details

Autor(en) / Beteiligte

• Ashton, Catherine
• Davis, Mark
• Needham, Merrilee
• Lamont, Phillipa

Titel

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

Ist Teil von

• Journal of neuromuscular diseases, 2022-01, Vol.9 (5), p.615-618

Ort / Verlag

London, England: SAGE Publications

Erscheinungsjahr

2022

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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.