Newman B, Meola G, O'Donovan D G, Schapira A H, Kingston H
University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Manchester, UK.
Neuromuscul Disord. 1999 May;9(3):144-9. doi: 10.1016/s0960-8966(98)00118-7.
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.
近端肌强直性肌病是一种最近才被描述的常染色体显性遗传病，其特征为近端肌病、白内障、间歇性肌强直和肌痛。我们报告了另外一个患有这种疾病的家族。先证者及其两个姐妹在怀孕期间出现肌强直，每次分娩后症状缓解。两个姐妹在每次怀孕之间都经历了肌痛。怀孕与症状加重之间的这种关系表明，激素对近端肌强直性肌病有有趣的影响。
