面肩肱型肌营养不良症的局灶性和其他不常见表现。

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy.

机构信息

Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, Minnesota 55905, USA.

出版信息

Muscle Nerve. 2012 Sep;46(3):421-5. doi: 10.1002/mus.23358.

DOI:10.1002/mus.23358

PMID:22907234

Abstract

INTRODUCTION

Facioscapulohumeral dystrophy (FSHD) presents classically with facial and shoulder-girdle weakness. We report focal atypical presentations of FSHD. Our aim was to identify focal/unusual phenotypes in genetically confirmed FSHD cases.

METHODS

We undertook a retrospective review of an academic center database of the period from 1996 to 2011. Of 139 FSHD cases, 7 had atypical genetically confirmed disease. Clinical data were abstracted.

RESULTS

Seven cases (4 men) had a mean age of 37 years at onset (range 18-63 years) and mean 43 years at diagnosis (range 20-74 years). Presenting symptoms were monomelic lower limb (n = 3) or upper limb (n = 2) atrophy, or axial weakness (n = 2). Five patients had focal weakness on examination. CK was normal to borderline high. Two patients had a relative with FSHD. Coexistent unusual features included dyspnea (n = 1), S1 radicular pain with calf atrophy (n = 2), and peripheral neuropathy (n = 1). Almost all patients had myopathic EMG changes. DNA analysis showed a D4Z4 EcoRI fragment size ranging from 20 to 37 kilobases.

CONCLUSIONS

FSHD may present with focal weakness, dyspnea and myopathic EMG changes. These findings should raise the possibility of FSHD.

摘要

简介

面肩肱型肌营养不良症（FSHD）的特征性表现为面肌无力和肩胛带肌无力。我们报告了 FSHD 的局灶性不典型表现。我们的目的是确定基因确诊的 FSHD 病例中局灶性/不常见表型。

方法

我们对 1996 年至 2011 年期间的一个学术中心数据库进行了回顾性研究。在 139 例 FSHD 病例中，有 7 例具有非典型的基因确诊疾病。我们提取了临床数据。

结果

7 例（4 例男性）发病时的平均年龄为 37 岁（范围 18-63 岁），诊断时的平均年龄为 43 岁（范围 20-74 岁）。首发症状为单侧性下肢（n=3）或上肢（n=2）萎缩，或轴性肌无力（n=2）。5 例患者体格检查时存在局灶性无力。肌酸激酶（CK）正常或轻度升高。2 例患者有 FSHD 的家族史。同时存在不常见的特征包括呼吸困难（n=1）、S1 神经根痛伴小腿萎缩（n=2）和周围神经病（n=1）。几乎所有患者的肌电图检查均显示肌病改变。DNA 分析显示 D4Z4 EcoRI 片段大小在 20-37 千碱基之间。