Progressive Ophthalmoplegia in Kugelberg-Welander Disease

Abstract

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.^1,2Tsukagoshi et al^3,4were the first to stress the occurrence of signs of bulbar palsy in patients with Kugelberg-Welander disease. This was subsequently confirmed by Gross⁵and Amick et al.⁶Involvement of the bulbar muscles has also been reported by Kaeser⁷and Fenichel et al⁸in 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 al⁹and case V/21 of Kaeser⁷). The patient to be described in this report had all the features of Kugelberg-Welander disease with evidence