title: Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy.
abstract: Proximal myotonic myopathy is a recently described autosomal dominant condition characterized by proximal myopathy, cataracts, intermittent myotonia, and myalgia. We report a further family with this condition. The proband and her two sisters presented with myotonia during pregnancy which resolved after each delivery. Two sisters experienced myalgia between each pregnancy. This relationship between pregnancy and symptom exacerbation suggests an intriguing hormonal influence in PROMM.
authors.affiliation: University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Manchester, UK.
authors.forename: B
authors.initials: B
authors.lastname: Newman
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.forename: D G
authors.initials: DG
authors.lastname: O'Donovan
authors.forename: A H
authors.initials: AH
authors.lastname: Schapira
authors.forename: H
authors.initials: H
authors.lastname: Kingston
mesh_terms: D000328:Adult; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009223:Myotonic Dystrophy / Q000235:genetics / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000473:pathology*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics