[Hereditary familial neuropathies: genetic counseling and early diagnosis in primary care].
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.
Bordas Julve
J M
JM
Unidad Docente de Medicina Familiar y Comunitaria, CAP La Mina, Sant Adrià del Besós, Barcelona.
Avila Rivera
F
F
Peñas López
F
F
Cots Yago
J M
JM
Espel Masferrer
C
C
Guarga Rojas
A
A
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D005817:Genetic Counseling; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011320:Primary Health Care; D013997:Time Factors
Neuropatías heredofamiliaries: consejo genético y diagnóstico precoz en atención primaria.