Scapuloperoneal syndrome. Report on two families with neurogenic muscular atrophy

Scapuloperoneal syndrome is a more or less clinically distinct neurologic entity with predominant involvement of scapular and peroneal muscles. The disease shows a variable mode of inheritance. Electromyography and muscle biopsy has shown the presence of denervation and dystrophic changes, sometimes both in the same patient. Cardiac manifestations when present add a graver prognosis to an otherwise relatively benign disease. Study of two cases in this report, one with significant sensory changes and another with cardiopathy, showed degeneration of peripheral nerve and mixed features in muscle biopsy. It is postulated that the myopathic or dystrophic features in the muscle of these cases and other patients with scapuloperoneal syndrome is likely to be secondary to slow denervation and reinnervation.