Enfermedad de kennedy en el Perú: Primeros casos con diagnóstico molecular

Translated title of the contribution: 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 journalArticlepeer-review

2 Scopus citations


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.

Translated title of the contributionKennedy disease in Peru: First cases with molecular diagnosis
Original languageSpanish
Pages (from-to)331-335
Number of pages5
JournalRevista Peruana de Medicina de Experimental y Salud Publica
Issue number2
StatePublished - 2013


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