Dacković J, Keckarević-Marković M, Komazec Z, Rakocević-Stojanović V, Lavrnić D, Stević Z, Ribarić K, Romac S, Apostolski S
Institute of Neurology, Clinical Center of Serbia, Belgrade, Serbia.
Acta Myol. 2008 Oct;27(2):59-62.
Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.
遗传性运动和感觉神经病洛姆型（HMSNL），也称为CMT 4D，是一种常染色体隐性遗传性神经病，由N-Myc下游调控基因1（NDRG1基因）突变引起，最初在靠近洛姆的保加利亚吉普赛人群体中被描述，后来在意大利、西班牙、斯洛文尼亚和匈牙利的吉普赛社区中也有发现。我们报告了一对患有HMSNL的兄弟姐妹，分别为30岁女性和26岁男性，来自塞尔维亚一个吉普赛族源的非近亲家庭。他们发育里程碑正常。两人均有下肢肌肉无力和行走困难并频繁跌倒的症状，始于7岁。12岁时出现听力问题，15岁时手部肌肉无力。神经学检查发现感音神经性听力损失、构音障碍、严重的远端和轻度的近端肌肉萎缩及无力、无反射以及远端分布的所有感觉模式受损。电生理研究显示失神经支配伴有严重且早期的轴突丧失。电耳蜗图和脑干诱发电位证实有感音神经性听力损失。分子遗传学检测证实NDRG1基因存在纯合子C564t（R148X）突变。
