Harding A E, Thomas P K, Baraitser M, Bradbury P G, Morgan-Hughes J A, Ponsford J R
J Neurol Neurosurg Psychiatry. 1982 Nov;45(11):1012-9. doi: 10.1136/jnnp.45.11.1012.
A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patients had gynaecomastia and some were infertile. Two had diabetes mellitus. Motor nerve conduction studies were normal but most patients had small or unrecordable sensory action potentials in the absence of clinical sensory loss. Plasma creatine kinase levels were considerably elevated and muscle biopsies showed neurogenic atrophy together with secondary myopathic changes. The importance of recognising this distinctive disorder in single cases (six of the present series) is emphasised.
本文描述了来自八个家庭的10名患者所患的一种X连锁隐性遗传的成人起病型“延髓脊髓性肌萎缩”。四肢肌肉无力主要为近端型，在30至50岁时出现，常在用力时出现肌肉痉挛和手部震颤之前发生。面部肌肉和舌肌的无力及肌束震颤较为突出。所有患者均有男性乳房发育，部分患者不育。两名患者患有糖尿病。运动神经传导研究正常，但大多数患者在无临床感觉丧失的情况下感觉动作电位较小或无法记录。血浆肌酸激酶水平显著升高，肌肉活检显示神经源性萎缩以及继发性肌病改变。强调了在个别病例（本系列中的6例）中识别这种独特疾病的重要性。
