La enfermedad avanza lentamente y causa daño a los nervios periféricos. Estos nervios cumplen funciones como controlar los músculos y transmitir. English Spanish online dictionary Term Bank, translate words and terms with different pronunciation options. Dejerine-Sottas Disease enfermedad de. Dejerine–Sottas disease (Q). rare disease. Charcot-Marie-Tooth type 3. edit Joseph Jules Dejerine. 1 reference. imported from Wikimedia project.

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Neurological disorders Neurogenetic disorders Rare diseases. Eur J Hum Genet, 17pp. Conduction at these points will be similarly slowed down in cases of demyelinating CMT and less slowed down or even preserved in cases of axonal CMT. The condition is caused by mutations in a various genes and currently has no known cure.

This page was last edited on 7 Marchat Other mutations were detected in 23 patients 4. TRPV4 is a nonselective cation channel involved in the detection of physical and chemical stimuli which takes part in multiple physiological functions. The prodigious advances in molecular genetics over the past 2 decades have meant that the nosology of CMT has been constantly changing, to the extent that this disease includes over 30 cloned pathogenic genes see below.

Table 1adapted from references 4, 7 and 8shows an updated clinical-genetic classification of CMT, which is tentative since there is no unanimous view on the use of its types and subtypes. CMT4 demyelinating with AR inheritance.

All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. The purpose of the present work was to describe a case of Dejerine-Sottas disease.


Neurological examination at the age of 9 years revealed slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Se continuar a navegar, consideramos que aceita o seu uso. Muscle Nerve ;22 9: CMT1 with dysmorphic signs in the Romani ethnic group. Charcot-Marie-Tooth disease can be divided into two types: Dejerine—Sottas disease is characterized by moderate to severe lower and upper extremity weakness and loss of sensation, which occur mainly in the lower legs, forearms, feet and hands.

Treatment may help to reduce symptoms.

Charcot-Marie-Tooth Disease

The authors have no conflicts of interest to declare. There are cases of autosomal recessive inheritance ssottas originally defined by Dejerine and Sottas in 3 Stogbauer et al. Indeed, recent studies have shown that these syndromes are associated with different, heterozygous, point mutations in the ankyrin domain of TRPV4sometimes with incomplete penetrance. Some other forms are inherited due to an abnormal x-linked chromosome.

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Other types include hereditary neuropathy with liability to pressure palsy and other rare forms of demyelinating peripheral neuropathies. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ostrovsky, MD Review Date: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia.

Radial neuropathy Wrist drop Cheiralgia paresthetica. Services on Demand Journal. Severe CMT1 phenotype with scoliosis Romani ethnic group. From Wikipedia, the free encyclopedia. Electromyography generally reveals decreased nerve conduction velocity. Development This paper is aimed at performing a nosological review of the disease, emphasising the guidelines for its molecular diagnosis. We have followed this approach. Prevalence of hereditary motor and sensory neuropathy in Cantabria. The application of nerve conduction and clinical studies to deerine counseling in hereditary motor and sensory neuropathy type I.


The correct composition and maintenance of the membranous compartments of Schwann cells and PNS neurons depend on a perfect balance between the synthesis of structural and signalling components and their degradation processes. The work of Saporta et al also helps establish the percentages of success for each mutation studied.

October 10, Last received: Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. If you or a family member have CMT or have risk factors, you may want to talk to a genetic counselor to understand the risk of passing on the disease before deciding to have children.

Term Bank – enfermedad de dejerine-sottas – Spanish English Dictionary

A sharp drop in distal CMAP amplitude implies a loss of thick fibres depending on the distance, and this may involve a proportional reduction in the MCV. However, in other cases the discovery of the mutated pathogenic protein proved unexpected.

Dejerine-Sottas disease was initially thought to be inherited as an autosomal recessive trait. Other symptoms may include pain in the extremities, curvature of the spine, clawed hands, foot deformities, ataxiaperipheral areflexiaand slow acquisition of motor skills in childhood. Hum Mol Genet, 14pp.

Type 2—This type affects the part of the nerve called the axons. In most people, the change is inherited. J Med Genet, 47pp.