Vargas-Cañas S, León-Manríquez E, Zúñiga-García DG

Language: Spanish
References: 7
Page: 54-59
PDF size: 186.35 Kb.

ABSTRACT

The bulbospinal muscular atrophy is a rare disease entity with X-linked inheritance pattern, being the gene coding for the androgen receptor the only one described that produces the phenotype in question. It is characterized by a slow, progressive degeneration of neurons in the bulbar motor nuclei of cranial nerves and spinal cord, which gives the manifestations of lower motor neuron. The first symptoms are associated with hypersensitivity to androgens, gynecomastia being the most important clinical sign. In this paper we present a case of spinal atrophy bulb in which characteristics of clinical appearance and neurological observations are reported.The aim of this article is to exemplify a diagnostic protocol for patients with motor neuron disease, in which the most important is to recognize the syndromic and topographic diagnosis from which the differential diagnoses to study are established, based on the most frequent entities that reasonably explain the patient’s symptoms.

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