CHRONIC SPINAL MUSCULAR ATROPHY IN ADULTS .1. KUGELBERG-WELANDER SYNDROME

Sixteen adult patients with longstanding spinal muscular atrophy are described in whom weakness was confined to, or more marked in proximal muscles, and this was generally symmetrical in distribution although not always in degree. Because of this distribution they have been considered as examples of the Kugelberg-Welander syndrome. Attention is drawn to a number of unusual features which were present in one or more of the cases described. These include the occurrence of bulbar and pyramidal signs, urinary incontinence and tremor, the onset of clinical signs in adult life, the occasional precipitation of weakness caused by intercurrent illness and progression of established weakness caused by immobilization, the aggravation of weakness by cold, the occurrence of Werdnig-Hoffmann disease in sibs, the presence of glycogen-containing vacuoles on muscle biopsy and the finding of EMG features superficially resembling those of a myopathy. These features are discussed in detail and the literature is reviewed. © 1969.