Leifsdóttir Gerour, Benedikz John E G B, Jóhannesson Guojón, Jónsson Jón Jóhannes, Sveinbjörnsdóttir Sigurlaug
Háskóli Islands, Laeknadeild.
Laeknabladid. 2005 Nov;91(11):829-34.
Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105. We carried out a total population survey of DM in Iceland in 2004 having Oct. 31 as the day of prevalence.
Patients were collected from multiple sources, including Landspitali University Hospital registry and through contact with neurologists, neuropaediatricians, paediatricians and rehabilitation specialists. All EMGs of DM patients were reviewed. Information was gathered about age, age of onset, family history of DM and clinical symptoms.
Eighty-two patients were ascertained giving a crude prevalence of 28.2/105. The prevalence of the congenital form of DM was 7.9/105 (23 patients, 26%). Affected females outnumbered males with a gender ratio of 1.2:1 (NS). Mean age of onset of symptoms for those, who didn't have the congenital form was 27.5 years (range 5-70 years). Ten families with DM were identified and all prevalent patients belonged to those families.
The prevalence of DM is high in Iceland and higher than generally reported. This study showed a three times higher total prevalence and a seven times higher prevalence of congenital DM than found in a previous study in Iceland. We believe that this increase in prevalence probably reflects increased awareness of inherited diseases in neonates and better detection of patients who have mild symptoms.
强直性肌营养不良（萎缩性肌强直，DM）的流行病学研究显示，不同地区的患病率有所不同，从0.46/10⁵到189/10⁵不等。我们于2004年在冰岛进行了一次DM的全人群调查，以10月31日作为患病率统计日。
患者来自多个来源，包括兰斯皮塔利大学医院登记处，并通过与神经科医生、神经儿科医生、儿科医生和康复专家联系收集。对所有DM患者的肌电图进行了复查。收集了有关年龄、发病年龄、DM家族史和临床症状的信息。
确定了82例患者，粗患病率为28.2/10⁵。先天性DM的患病率为7.9/10⁵（23例患者，占26%）。受影响的女性多于男性，性别比为1.2:1（无统计学差异）。非先天性患者的平均症状发病年龄为27.5岁（范围5 - 70岁）。确定了10个患有DM的家庭，所有现患患者均属于这些家庭。
DM在冰岛的患病率很高，且高于一般报道。本研究显示，总患病率比冰岛此前一项研究高出三倍，先天性DM的患病率高出七倍。我们认为，患病率的增加可能反映出对新生儿遗传性疾病的认识提高以及对症状较轻患者的检测更好。
