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Revista Médica del Uruguay

versión impresa ISSN 0303-3295versión On-line ISSN 1688-0390

Resumen

MORAES, Mariana et al. Spinal and bulbar muscular atrophy (SBMA): Kennedy’s disease. Clinical and genetic aspects. Rev. Méd. Urug. [online]. 2019, vol.35, n.3, pp.160-175.  Epub 01-Sep-2019. ISSN 0303-3295.  http://dx.doi.org/10.29193/rmu.35.3.7.

Spinal and bulbar muscular atrophy (SBMA) is a neurological disease characterized by the progressive degeneration of the inferior motor neurones, what results in muscle weakness, atrophy and fasciculations. It possesses a genetic etiology with X-linked recessive inheritance mode, and thus affects men. There is an abnormal expansion of the CAG polyglutamine encoding repeat within the androgen receptor gene. It is noticed by signs of androgen insentistivity (gynecomastia and infertility). At 20-30 years old approximately signs of compromise of the lower motor neurones in the spine are seen in cramps and action tremor followed by muscle weakness, evidencing bulbar involvement in the evolution. The study presents the ciínical-genealogical case of a 32 year-old male with tremor, whose Kennedy disease was confirmed with molecules. This is the first case reported in Uruguay as far as we know.

The importance of considering this condition is pointed out in a young patient with “tremor” when muscle weakness is not evident yet. Family history is key. The presence of fasciculation in the electrical study strongly suggests this condition. Molecular confirmation is important for genetic advice purposes.

Palabras clave : Bulbo-spinal atrophy; X-linked; Kennedy disease; Case reports.

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