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Enfermedad de Hallervorden-Spatz - Symptom

Nombres alternativos

Neurodegeneración asociada a pantotenato cinasa

Síntomas:

Signos y exámenes:

El médico llevará a cabo un examen físico y hará preguntas acerca de la historia clínica del paciente. Es importante obtener los antecedentes clínicos y familiares completos, dado que la afección puede ser hereditaria.

Una evaluación neurológica mostrará:

  • Posturas y movimientos anormales
  • Rigidez muscular
  • Temblores
  • Debilidad

Con las pruebas genéticas, se puede buscar el gen defectuoso causante de la enfermedad. Sin embargo, este examen aún no está ampliamente disponible y sólo se encuentra en ciertos laboratorios de investigación.

Exámenes como la resonancia magnética pueden ayudar a descartar otras enfermedades y trastornos del movimiento.

  • Reviewed last on: 9/28/2010
  • David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Lang A. Other movement disorders. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 434.

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