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  • Title: [Hereditary sensory and autonomic neuropathy type II A: early neurological and skeletal findings].
    Author: Esmer C, Díaz Zambrano S, Santos Díaz MA, González Huerta LM, Cuevas Covarrubias SA, Bravo Oro A.
    Journal: An Pediatr (Barc); 2014 Apr; 80(4):254-8. PubMed ID: 23831200.
    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.
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