Kennedy disease in Peru: First cases with molecular diagnosis

Víctor Gómez-Calero, Mario Cornejo-Olivas, Olimpio Ortega, Victoria Marca, Saúl Lindo-Samanamud, Martha Flores, Luis Torres-Ramírez, Pilar Mazzetti

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

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 Kennedýs disease with confirmed molecular diagnosis.
Original languageAmerican English
Pages (from-to)331-335
Number of pages5
JournalRevista Peruana de Medicina Experimental y Salud Publica
StatePublished - 1 Jan 2013
Externally publishedYes

Fingerprint Dive into the research topics of 'Kennedy disease in Peru: First cases with molecular diagnosis'. Together they form a unique fingerprint.

  • Cite this

    Gómez-Calero, V., Cornejo-Olivas, M., Ortega, O., Marca, V., Lindo-Samanamud, S., Flores, M., Torres-Ramírez, L., & Mazzetti, P. (2013). Kennedy disease in Peru: First cases with molecular diagnosis. Revista Peruana de Medicina Experimental y Salud Publica, 331-335.