Ricker K
Department of Neurology, University of Wüzburg, Reichenberg, Germany.
J Neurol. 1999 May;246(5):334-8. doi: 10.1007/s004150050359.
Myotonic dystrophy (DM) is a well-known multisystem disorder with dominant inheritance. Proximal myotonic myopathy (PROMM) has been defined only recently, it is rather similar to but distinct from DM. Molecular genetic testing of the CTG trinucleotide repeat expansion is a reliable diagnostic method in DM. In PROMM these CTG repeats are normal, and no genetic test is so far available. Comparing the phenotypes of DM and PROMM, an important point seems to be that PROMM is a more benign disorder. There are almost no obvious mental changes in PROMM patients; premature death is extremely rare; anticipation appears to be present but to a milder degree; a severe congenital type of PROMM apparently is very rare if it occurs at all. On the other hand, at least in the German population, the frequency of PROMM may be almost equal to that of DM.
强直性肌营养不良（DM）是一种已知的具有显性遗传的多系统疾病。近端强直性肌病（PROMM）直到最近才被定义，它与DM相当相似但又有所不同。对CTG三核苷酸重复序列扩增进行分子遗传学检测是DM中一种可靠的诊断方法。在PROMM中，这些CTG重复序列是正常的，目前尚无可用的基因检测方法。比较DM和PROMM的表型，一个重要的点似乎是PROMM是一种更良性的疾病。PROMM患者几乎没有明显的精神变化；过早死亡极为罕见；遗传早现似乎存在，但程度较轻；严重的先天性PROMM类型如果确实发生，显然也非常罕见。另一方面，至少在德国人群中，PROMM的发病率可能几乎与DM相等。
