Thursday, January 27, 2011

X-linked muscular atrophy spinobulbara

X-linked muscular atrophy spinobulbara

Called Kennedy disease, this disease is a disease of the peripheral motor neuron. The disease is characterized by progressive reduction of strength and muscle mass and limb muscles innervated by bulbar level. Onset of symptoms occurs in adulthood. Some patients have a subtle sensory neuropathy.It is associated with lack of sensitivity to androgens, manifested by gynecomastia and decreased fertility. Pyramidal tracts are not adversely affected in amyotrophic lateral sclerosis.Diagnosis is based on clinical signs and analysis of DNA from peripheral blood. DNA study reveals an extensive trinucleotidului CAG repeat in the first exon of the androgen receptor gene located on chromosome X.

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