X-Linked recessive bulbospinal neuronopathy (X-BSNP) has previously been described as a disease in which the first clinical symptoms which occur concern the motor system. A weakness of the shoulder and pelvic girdle muscles as well as cramps and muscle pain in the proximal limbs are normally found in the early stages.1-3 The onset of X-BSNP generally ranges between the ages of 25 and 50 years; the disorder then shows a slow but continuous progression of symptoms.1 3 An involvement of facial and bulbar musculature with fasciculations and atrophy of these muscles and, therefore, often dysarthria and dysphagia, are common symptoms of an advanced stage.1 3 Nevertheless, life expectancy does not seem to be considerably reduced.1Sensory impairment was reported to be minimal or non-existent.1-3

Pathoanatomical studies showed that a degeneration of both the lower motor and primary …