van Gent E M, Hoogland R A, Jennekens F G
J Neurol Neurosurg Psychiatry. 1985 Mar;48(3):266-9. doi: 10.1136/jnnp.48.3.266.
An autosomal dominant disease characterised by amyotrophy of predominantly distal upper limb muscles and mild pyramidal features is described. There are sensory changes in older patients, whilst in others the disease presents itself as a disorder of motor neurons. Owing to variations in the clinical picture, it may be difficult to distinguish this disease in individual patients from distal spinal muscular atrophy, or from pure pyramidal syndromes. There is an overlap in clinical signs between this disease and peroneal muscular atrophy with pyramidal features. Whether or not the latter two conditions are genetically distinct, is a matter of doubt.
本文描述了一种常染色体显性疾病，其特征为主要是上肢远端肌肉的肌萎缩以及轻度锥体束征。老年患者存在感觉改变，而在其他患者中，该疾病表现为运动神经元疾病。由于临床表现存在差异，在个体患者中可能难以将这种疾病与远端脊髓性肌萎缩或纯锥体束综合征区分开来。该疾病与伴有锥体束征的腓骨肌萎缩症在临床体征上存在重叠。后两种情况在遗传上是否不同，尚不确定。
