We report seven Charcot-Marie-Tooth 4B1 (CMT4B1) patients from four families with distinctive features, presenting with severe distal weakness and cranial nerve involvement. Patient from family 1 presented with congenital varus foot deformity, progressive distal and proximal weakness leading to loss of ambulation at 14 years, bilateral facial palsy and prominent bulbar involvement. In three siblings from family 2, still ambulant in the second decade, neuropathy was associated with marked sweating and Arnold-Chiari syndrome. Patient from family 3, wheelchair-bound by 17 years, suffered from recurrent intestinal occlusion due to a mesenteric malformation. Patients from family 4, wheelchair-bound from age 6 years, were first diagnosed with type 1 Usher syndrome with congenital deafness and retinitis pigmentosa. CMT4B1 diagnosis was based upon suggestive clinical features and confirmed by the presence of recessive mutations in the MTMR2 gene. Our results expand the genetic and phenotypic spectrum of CMT4B1, which may include autonomic system involvement.

中文翻译：

---

CMT4B1中混杂的临床表现和不同的疾病进展

我们报告了来自四个家族的七名 Charcot-Marie-Tooth 4B1 (CMT4B1) 患者，这些患者具有独特的特征，表现为严重的远端无力和颅神经受累。来自家庭 1 的患者出现先天性足内翻畸形、进行性远端和近端无力导致 14 岁时无法行走、双侧面神经麻痹和突出的延髓受累。在第二个十年仍能走动的 2 家庭的三个兄弟姐妹中，神经病变与显着出汗和 Arnold-Chiari 综合征有关。来自家庭 3 的患者，坐轮椅 17 年，因肠系膜畸形而反复肠闭塞。来自家庭 4 的患者，从 6 岁开始坐轮椅，首先被诊断出患有先天性耳聋和视网膜色素变性的 1 型 Usher 综合征。CMT4B1 诊断基于提示性临床特征，并通过 MTMR2 基因中存在隐性突变来证实。我们的结果扩展了 CMT4B1 的遗传和表型谱，其中可能包括自主神经系统的参与。