Berciano J, Gallardo E, García A, Infante J, Mateo I, Combarros O
Service of Neurology, University Hospital Marqués de Valdecilla-IFIMAV, University of Cantabria, 39008 Santander, Spain.
J Neurol Neurosurg Psychiatry. 2006 Oct;77(10):1169-76. doi: 10.1136/jnnp.2006.093443. Epub 2006 Jun 20.
To describe a large pedigree with Charcot-Marie-Tooth disease type 1A (CMT1A) duplication in which severe pelvic and thigh musculature weakness occurred in two patients, detected by analysing the leg muscle atrophy pattern on magnetic resonance imaging (MRI).
The pedigree comprised 18 patients, aged between 15 and 85 (median 46) years, who were serially evaluated for up to three decades. All 18 patients and 13 non-affected at-risk people underwent electrophysiological examination. An MRI study of lower limb musculature was carried out in four patients. Three patients underwent sural-nerve biopsy. Genetic testing was carried out in 17 patients and in all 13 at-risk normal people.
Fourteen patients were asymptomatic or slightly disabled. The two oldest patients, aged 84 and 80, showed a moderate phenotype. Two other patients, aged 70 and 53, showed late-onset and gradually progressive peroneal paresis extending up to the thigh and pelvic musculature, resulting in waddling gait. MRI scans of all three patients with a mild phenotype showed subtle and subclinical fatty infiltration of calf anterolateral muscle compartments, with thigh muscle involvement in one patient, and extensive atrophy of intrinsic foot muscles. In the youngest patient with proximal leg weakness, the MRI scan showed massive fatty atrophy of all the calf muscles, posteromedial thigh muscle compartments, and internal and external hip rotator muscles. Sural-nerve biopsy specimens showed hypertrophic neuropathy with no superimposed inflammation. Good correlation was seen between electrophysiological and genetic testing.
Late in the clinical course, a small proportion of patients with CMT1A develop severe proximal leg weakness, and long-term follow-up is essential for its detection. MRI scans may show subclinical involvement of the thigh musculature.
描述一个患有1A型遗传性运动感觉神经病（CMT1A）重复突变的大家族谱系，通过分析磁共振成像（MRI）上腿部肌肉萎缩模式，发现其中两名患者出现严重的骨盆和大腿肌肉无力。
该家族谱系包括18名患者，年龄在15至85岁（中位数46岁）之间，连续接受了长达三十年的评估。所有18名患者和13名未受影响的高危人群均接受了电生理检查。对4名患者进行了下肢肌肉的MRI研究。3名患者接受了腓肠神经活检。对17名患者和所有13名高危正常人群进行了基因检测。
14名患者无症状或轻度残疾。两名年龄最大的患者，分别为84岁和80岁，表现为中度表型。另外两名患者，年龄分别为70岁和53岁，表现为迟发性且逐渐进展的腓骨肌麻痹，向上延伸至大腿和骨盆肌肉，导致摇摆步态。所有三名轻度表型患者的MRI扫描均显示小腿前外侧肌间隔有细微和亚临床脂肪浸润，其中一名患者大腿肌肉受累，足部固有肌肉广泛萎缩。在最年轻的近端腿部无力患者中，MRI扫描显示所有小腿肌肉、大腿后内侧肌间隔以及髋部内外旋肌均有大量脂肪萎缩。腓肠神经活检标本显示为肥厚性神经病变，无叠加炎症。电生理检查与基因检测之间存在良好的相关性。
在临床病程后期，一小部分CMT1A患者会出现严重的近端腿部无力，长期随访对于其检测至关重要。MRI扫描可能显示大腿肌肉的亚临床受累。
