Neurogenic Muscular Atrophy Simulating Muscular Dystrophy

Abstract

Degenerative lower motor neuron disease accompanied by weakness affecting predominantly the proximal muscles of the extremities, a syndrome closely simulating muscular dystrophy, is apparently very rare. Although there have been occasional instances in the neurologic literature where such cases have been mentioned, but without the inclusion of detailed reports, hereditary proximal muscular atrophy was not established as a separate clinical entity until the investigations of Kugelberg and Welander¹and of Wohlfart, Fex, and Eliasson²had been reported. The syndrome described by these authors included (1) onset of muscle weakness in childhood or adolescence; (2) atrophy, hyporeflexia, and weakness predominantly affecting the proximal muscles; (3) very slow progression; (4) hereditary transmission apparently as a non-sex-linked recessive; (5) confirmation of the neurogenic nature of the disorder by muscle biopsy and/or electromyography. Fasciculations were found to be present in many, but not in all, of the reported cases. The patients of