The following abstract is from PubMed. The more cases of Kennedy’s Disease, the greater the emphasis on clinical research to find a treatment and a cure.
Rev Peru Med Exp Salud Publica. 2013 Jun;30(2):331-5.
Gómez-Calero V,
Cornejo-Olivas M,
Ortega O,
Marca V,
Lindo-Samanamud S,
Flores M,
Torres-Ramírez L,
Mazzetti P.
Source
Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas, Lima, Perú
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.
Departamento de Enfermedades Neurodegenerativas, Instituto Nacional de Ciencias Neurológicas, Lima, Perú 
No comments:
Post a Comment
Please feel free to comment. By taking a moment to share your thoughts you add much to these articles. The articles then become more than just something I said or believe. In addition, by adding a comment, you might just be helping the next reader by sharing your opinion, experience, or a helpful tip. You can comment below or by sending me an email. I look forward to hearing from you.