Department of Neurology, Chiba Children's Hospital, Chiba, Japan.
Neuromuscul Disord. 2013 Aug;23(8):652-5. doi: 10.1016/j.nmd.2013.04.010. Epub 2013 Jun 14.
Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating neuropathy. It presents as infancy or early childhood-onset neuropathy associated with FGD4 mutations. Clinically it causes predominantly distal muscle weakness. On nerve biopsy examination, myelin outfoldings are seen. The previous case reports have been from regions bordering the Mediterranean, as well as a family from Northern Ireland. This paper presents the detailed clinical course of the first reported case of CMT4H in a Japanese woman. The patient showed mild weakness without scoliosis and a severe sensory disturbance; her functional impairment was less severe than the previously published cases. In addition, a novel homozygous FGD4 c.837-1G>A mutation was identified in this patient.
腓骨肌萎缩症 4H 型（CMT4H）是一种常染色体隐性脱髓鞘神经病。它表现为婴儿期或儿童早期发病的神经病，与 FGD4 突变有关。临床上主要引起远端肌肉无力。在神经活检检查中，可见髓鞘折叠。以前的病例报告来自地中海地区以及北爱尔兰的一个家族。本文报告了首例在日本女性中发现的 CMT4H 的详细临床过程。该患者表现为轻度无力而无脊柱侧凸和严重的感觉障碍；她的功能损伤比以前发表的病例轻。此外，在该患者中还发现了一种新的 FGD4 c.837-1G>A 纯合突变。
