2013, Number 2
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Med Int Mex 2013; 29 (2)
Illness of Kennedy (Muscular Atrophy Bulbous Hawthorn). Report of case and review of the literature
Durán-Salgado MB, Fernández-Valverde F, Vargas-Cañas ES, Medina-Luna P
Language: Spanish
References: 26
Page: 213-218
PDF size: 267.34 Kb.
ABSTRACT
The muscular atrophy bulbous hawthorn is a recessive neuronopatic, linked to the X chromosome of adulthood. It is a disorder polyglutaminic caused by the expansion of the track of the polyglutamine repeat disorders in the androgen receptor. The outstanding characteristic of the muscle atrophy espino-bulbar is the loss of motoneurons in the Asta anterior of the spinal cord and brain stem. The clinical manifestations are diverse and the laboratory studies range from asymptomatic hyperkalemia until severe muscle disease, with bulbar symptoms that may require mechanical ventilatory support. The diagnosis is based on the medical history, neurological examination, biochemical studies, studies of nerve conduction velocity, electromyography and genetic analysis. Currently, there is no specific treatment. The treatment is symptomatic and often indicate drugs antioxidants such as vitamin E and co-enzyme Q10. It is reported the case of a patient with typical picture of the disease of Kennedy, without a family history of the mutation.
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