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Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy
B Newman1, G Meola, D G O'Donovan
1University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Manchester, UK.
Neuromuscular Disorders : NMD
|June 26, 1999
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.