Kugelberg-Welander syndrome or muscular dystrophy? A family study

Abstract

Three young boys in an extended family were first seen in their first decade for proximal muscle weakness without sensory loss. The patients were diagnosed as Duchenne muscular dystrophy for over 10 years. The diagnosis is now reviewed and these cases are shown to suffer from a benign childhood variant of motor neuron disease called Kugelberg-Welander synrome or benign proximal spinal muscular atrophy. The similarities between the two conditions are many, including age of onset, proximal muscle weakness, heredofamilial, male preponderance, rasied muscle enzymes and normal nerve conduction studies. Denervation atrophy however can be established by the presence of fasciculations, a well chosen muscle biopsy or more simply and accurately by electromyography