[Hereditary familial neuropathies: genetic counseling and early diagnosis in primary care]

Aten Primaria. 1990 Sep;7(8):568-70.
[Article in Spanish]


We present 5 cases of sensitive-motor hereditary neuropathies which were detected or controlled in primary care. Four patients had Charcot-Marie-Tooth disease (type I) and the remaining patient is a carrier of Dejerine-Sottas disease (type III). Regardless of the age of presentation of the disease, the evolution has been slow but steady in all cases. Talipes cavus is the most frequent secondary deformity. An electroneuromyographic study and a neural biopsy were the complementary diagnostic tests used. Three of the patients presented family antecedents. We believe that early diagnosis, family study and genetic advice are of great importance in primary care.

Publication types

  • English Abstract

MeSH terms

  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics
  • Genetic Counseling*
  • Hereditary Sensory and Motor Neuropathy / diagnosis*
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Humans
  • Primary Health Care*
  • Time Factors