[Familial hypertrophic neuropathies. Conceptual and critical outline. Report of a family with Dyck and Lambert's type IV disease (author's transl)].
The authors make a historical and critical summary of the clinical development of hypertrophic neuropathies up to the classification established by Dick and Lambert, based on its clinical, electrophysiological and genetic study. Until more light is shed on the etiology of these diseases by the metabolic studies already initiated, the use of such classification is recommended. Based on this point of view the clinical, electrophysiological and pathological study of five members of a peculiar family is presented. The affected members presented clinically with different stages of evolution of the uncommon form defined as type IV by Dick and Lambert.
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D009443:Neuritis / Q000235:genetics* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome
Neuropatías hipertróficas familiares. Delimitación conceptual y crítica. Aportación de un grupo familiar tipo IV de Dyck y Lambert.