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.
|Título traducido de la contribución||Kennedy disease in Peru: First cases with molecular diagnosis|
|Número de páginas||5|
|Publicación||Revista Peruana de Medicina de Experimental y Salud Publica|
|Estado||Publicada - 2013|
- Bulbo-spinal atrophy
- Genetic diseases