Young I D, Harper P S
J Neurol Neurosurg Psychiatry. 1980 May;43(5):413-8. doi: 10.1136/jnnp.43.5.413.
A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis is a characteristic and potentially hazardous feature. No previous report of this condition has been found.
本文描述了一个大家族，其中一种不寻常形式的脊髓性肌萎缩症以常染色体显性方式遗传。该病最常见于青少年时期，表现为手部小肌肉萎缩，尤其累及正中神经支配的肌肉组织。随后，下肢出现远端肌肉萎缩和无力。声带麻痹是其特征性表现，且具有潜在危险性。此前尚未发现关于这种病症的报道。
