[Kennedy disease in Peru: first cases with molecular diagnosis]. / Enfermedad de Kennedy en el Perú: primeros casos con diagnóstico molecular.
Rev Peru Med Exp Salud Publica
; 30(2): 331-5, 2013 Apr.
Article
em Es
| MEDLINE
| ID: mdl-23949524
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 Kennedy's disease with confirmed molecular diagnosis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofia Bulboespinal Ligada ao X
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Aged
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Peru
Idioma:
Es
Revista:
Rev Peru Med Exp Salud Publica
Assunto da revista:
SAUDE PUBLICA
Ano de publicação:
2013
Tipo de documento:
Article
País de publicação:
PE
/
PERU