Atrofia muscular espinal y bulbar: Enfermedad de Kennedy. Aspectos clínicos y genéticos

Mariana Moraes; Judith Calvo; Nélida Montano; Ximena Rodríguez; Roberto Quadrelli; Alicia Vaglio

doi:10.29193/RMU.35.3.7

Authors

Mariana Moraes Universidad Rey Juan Carlos, Valencia, España. Escuela Europea de Ciencias. Experto universitario en Genética médica. https://orcid.org/0000-0001-7555-0857
Judith Calvo Asociación Española y HCFFAA. Especialista en Neurología. Diplomada en Neurofisiología Clínica (electro diagnóstico). https://orcid.org/0000-0001-5214-6405
Nélida Montano Universitat de Valencia. Experto universitario en Genética médica. https://orcid.org/0000-0002-8780-1745
Ximena Rodríguez Universitat de Valencia. Experto universitario en Genética médica. https://orcid.org/0000-0003-2502-4749
Roberto Quadrelli Academia Nacional de Medicina, Montevideo, Uruguay. Hospital Italiano, Instituto de Genética Médica. https://orcid.org/0000-0003-2144-8296
Alicia Vaglio Uruguay, Hospital Italiano, Instituto de Genética Médica. https://orcid.org/0000-0002-0610-0606

DOI:

https://doi.org/10.29193/RMU.35.3.7

Keywords:

BULBO-SPINAL ATROPHY, X-LINKED, KENNEDY DISEASE, CASE REPORTS

Abstract

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 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.

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