Charcot-Marie-Tooth disease in several members of a family

Authors

  • Tamara Rubio González Policlínico Docente “Camilo Torres Restrepo”, Universidad de Ciencias Médicas, Santiago de Cuba, Cuba.
  • Lisandra Norbet Vázquez Facultad de Medicina No. 1, Universidad de Ciencias Médicas, Santiago de Cuba, Cuba.
  • Adriana de Paz Rosales Facultad de Medicina No. 1, Universidad de Ciencias Médicas, Santiago de Cuba, Cuba.

Keywords:

Charcot-Marie-Tooth disease, motor sensitive neuropathy, mixed hereditary neuropathy

Abstract

Charcot-Marie-Tooth disease is a degenerative affection of the peripheral nervous system that presents great genetic and clinic heterogeneity. The presentation with   autosomal dominant pattern, well-known in some classifications as type I, is the most frequent; also, the making of the genealogical tree turns out to be the most important instrument to know the inheritance type. To such effects, 2 case reports belonging to a     family with 35 members affected by this neurological dysfunction are described, assisted in the Provincial Center of Medical Genetics in Santiago de Cuba. 

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References

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Published

2016-02-06

How to Cite

1.
Rubio González T, Norbet Vázquez L, de Paz Rosales A. Charcot-Marie-Tooth disease in several members of a family. MEDISAN [Internet]. 2016 Feb. 6 [cited 2025 Jun. 21];20(2). Available from: https://medisan.sld.cu/index.php/san/article/view/656

Issue

Vol. 20 No. 2 (2016): MEDISAN

Section

Case Reports

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