title: [Hereditary sensory and autonomic neuropathy type II A: early neurological and skeletal findings].
abstract: The hereditary sensory and autonomic neuropathies are genetic disorders characterized by the loss of sensation including pain, tactile and temperature. Its clinical and molecular features vary widely; the symptoms may begin from birth or be noticed in the first or second decade, with different types of complications of trauma to the extremities such as ulcers, mutilations and acral amputations. They are classified into six groups from I to VI, determined by the abnormality in eleven genes leading to phenotypic variations in the age of onset and the presence or absence of dysautonomia signs. With the exception of type I, all are autosomal recessive. The type II of these neuropathies is characterized by insensitivity to pain, heat and proprioception. We describe three members of a Mexican family with WNK1 gene mutation that caused hereditary neuropathy IIA.
authors.affiliation: Departamento de Genética, Hospital Central Dr. Ignacio Morones Prieto, Zona Universitaria, San Luis Potosí, México.
authors.forename: C
authors.initials: C
authors.lastname: Esmer
authors.affiliation: Departamento de Neurología y Neurofisiología Pediátrica, Centro de Rehabilitación y Educación Especial, San Luis Potosí, México.
authors.forename: S
authors.initials: S
authors.lastname: Díaz Zambrano
authors.affiliation: Departamento de Genética, Hospital Central Dr. Ignacio Morones Prieto, Zona Universitaria, San Luis Potosí, México.
authors.forename: M A
authors.initials: MA
authors.lastname: Santos Díaz
authors.affiliation: Departamento de Genética, Hospital General de México, México D.F., México.
authors.forename: L M
authors.initials: LM
authors.lastname: González Huerta
authors.affiliation: Departamento de Genética, Hospital General de México, México D.F., México.
authors.forename: S A
authors.initials: SA
authors.lastname: Cuevas Covarrubias
authors.affiliation: Departamento de Neurología Pediátrica. Hospital Central Dr. Ignacio Morones Prieto, Zona Universitaria, San Luis Potosí, México. Electronic address: antoniobravooro@hotmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Bravo Oro
mesh_terms: D000293:Adolescent; D001847:Bone Diseases / Q000209:etiology; D002648:Child; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology
keywords: Autonomic sensory neuropathy hereditary; Gen WNK1; Neuropatías periféricas; Neuropatías sensitivas autonómicas hereditarias; Peripheral neuropathies; Pérdida sensorial; Sensory loss; WNK1 gene