KUGELBERG-WELANDER disease is the juvenile form of spinal muscular atrophy. It was believed until recently that with the occasional exception of the sternocleidomastoid, the muscles inervated by the cranial nerves were not affected in the course of this disease.1,2 Tsukagoshi et al3,4 were the first to stress the occurrence of signs of bulbar palsy in patients with Kugelberg-Welander disease. This was subsequently confirmed by Gross5 and Amick et al.6 Involvement of the bulbar muscles has also been reported by Kaeser7 and Fenichel et al8 in patients with the scapuloperoneal and facioscapulohumeral forms of the disease. Involvement of the external eye muscles in Kugelberg-Welander disease has been mentioned before but has received little attention (case 7 of Wohlfahrt et al9 and case V/21 of Kaeser7). The patient to be described in this report had all the features of Kugelberg-Welander disease with evidence
Aberfeld DC, Namba T. Progressive Ophthalmoplegia in Kugelberg-Welander Disease: Report of a Case. Arch Neurol. 1969;20(3):253–256. doi:10.1001/archneur.1969.00480090041005
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