SciELO - Scientific Electronic Library Online

 
vol.30 issue2Recurrent diarrhea due to Cystoisopora belli in HIV/AIDS patients receiving HAARTRuna soncco: Manuel Núñez Butron y su proyecto de educación sanitaria author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


Revista Peruana de Medicina Experimental y Salud Publica

Print version ISSN 1726-4634

Abstract

GOMEZ-CALERO, Víctor et al. Kennedy disease in Peru: First cases with molecular diagnosis. Rev. perú. med. exp. salud publica [online]. 2013, vol.30, n.2, pp.331-335. ISSN 1726-4634.

Kennedy’s disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG repeats expansion in the androgen receptor gene (AR) in all cases. Clinical features were consistent with other previous reports. These are the first Peruvian cases of Kennedy´s disease with confirmed molecular diagnosis.

Keywords : Bulbo-spinal atrophy; X-linked; Receptors, androgen; Genetic diseases, X-linked.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )