Palmucci L, Mongini T, Doriguzzi C, Maniscalco M, Schiffer D
Paolo Peirolo Centre for Neuromuscular Diseases, Clinica Neurologica II, Università di Torino, Turin, Italy.
J Neurol Neurosurg Psychiatry. 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42.
Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. Follow up did not show progression of the disease. This is the first observation of an association of neurogenic facio-scapulo-peroneal and rigid spine syndrome. The double first-cousin marriage suggests autosomal recessive inheritance.
两姐妹和一名一级堂妹表现出脊柱僵硬及面肩胛腓骨肌萎缩。这些患者来自一个有两次近亲结婚的家族。肌电图、肌肉和神经活检显示为神经源性肌肉萎缩,无周围神经受累。随访未发现疾病进展。这是首次观察到神经源性面肩胛腓骨肌萎缩与僵硬脊柱综合征的关联。双重近亲结婚提示常染色体隐性遗传。