Title
Kennedy disease in Peru: First cases with molecular diagnosis
Other title
Enfermedad de kennedy en el Perú: Primeros casos con diagnóstico molecular
Date Issued
01 January 2013
Access level
metadata only access
Resource Type
journal article
Author(s)
Publisher(s)
Instituto Nacional de Salud
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.
Start page
331
End page
335
Volume
30
Issue
2
Language
Spanish
OCDE Knowledge area
Salud pública, Salud ambiental
Subjects
Handle or URL
Scopus EID
2-s2.0-84882720778
PubMed ID
Source
Revista Peruana de Medicina Experimental y Salud Publica
ISSN of the container
14734222
Sponsor(s)
Fogarty International Center R25TW009345 FIC
Sources of information:
Directorio de Producción Científica
Scopus