Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy

No testosterone for spinal and bulbar muscular atrophy (SBMA)

Spinal and bulbar muscular atrophy (SBMA), later termed Kennedy disease, was first described clinically in 1968.1 The disease is sex linked, recessively inherited and manifests in adulthood with slowly progressive bulbar dysfunction, limb weakness, giant fasciculations and gynaecomastia. Its molecular basis was discovered in 19912 : the expansion of a trinucleotide CAG repeat that encodes the polyglutamine (polyQ) tract in the first exon of the androgen receptor (AR) gene. This neurodegenerative disease is sometimes mistaken as amyotrophic lateral sclerosis (ALS), but typical clinical features and diagnostic molecular testing clearly distinguishes SBMA from ALS. SBMA progresses at a much slower pace and involves slowly progressive weakness and aspiration, resulting in pneumonia and shorter survival in some patients. It has no effective treatment.3 4 Currently, potential treatments are approached via two completely different strategies. The first strategy...

from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2uHoaCB