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Charcot-Marie-Tooth (CMT) disease is a genetically transmitted illness which encompasses a range of primary hereditary neuropathic sensory-motor disturbances affecting peripheral nervous system. We present a patient suffering long-term CMT type 1A who presents a soft tissue defect on the padding of the palms of the hands associated with the characteristic distal amyotrophy due to the disease, which causes dysfunctional and painful gripping and resting of the palm of the hand against surfaces. Our patient was submitted to a lipofilling procedure on the palms of both hands resulting on a satisfactory functional outcome and a substantial improvement of long-term quality of life. [ABSTRACT FROM AUTHOR]

Introduction: Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies with high prevalence that cause distal damage with atrophy and deformities. The use of regional anesthesia has been restricted due to the fear of causing permanent neurological damage or aggravating existing nerve injury. Case report: we present a case of a brachial plexus block performed in a patient with Charcot-Marie-Tooth with no later neurological complications. Conclusion: assessing their use in each case, regional techniques may be an appropriate anesthesia option in Charcot-Marie-Tooth patients, although more case report publications are necessary. [ABSTRACT FROM AUTHOR]

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Charcot-Marie-Tooth disease is a degenerative affection of the peripheral nervous system that presents great genetic and clinic heterogeneity. The presentation with autosomal dominant pattern, well-known in some classifications as type I, is the most frequent; also, the making of the genealogical tree turns out to be the most important instrument to know the inheritance type. To such effects, 2 case reports belonging to a family with 35 members affected by this neurological dysfunction are described, assisted in the Provincial Center of Medical Genetics in Santiago de Cuba. [ABSTRACT FROM AUTHOR]

The Charcot-Marie-Tooth disease is defined as a sensory-motor polineurophatic abnormality, of demyelinating or axonal type, and genetic and clinical heterogeneity. Objective: this review is intended to update the clinical spectrum of this disease, as well as to know the molecular and therapeutic advances that contribute to understand and manage better this heterogeneous entity. Development: the Charcot-Marie-Tooth disease is a genetically complex syndrome with more than 30 associated genes; it is one of the more common hereditary neuropathies, whose reports indicate an estimated prevalence of 17-25 cases / 100,000 inhabitants. The clinical spectrum is broad, without an established genotype-phenotype correlation; however, there are a number of clinical features that allow their inclusion in several clinical subtypes. Typically, the patients present with distal muscle weakness and atrophy often associated with foot sensory loss and mild to moderate depression of tendon reflexes. Conclusions: the Charcot-Marie-Tooth classification is complex and constantly subject to a review of new genes and mutations. The observed clinical variability coincides with the involvement of different genes and proteins that help maintain function and integrity of the peripheral nerve, so that they become an important research target for developing new and better therapies. [ABSTRACT FROM AUTHOR]

Peripheral neuropathies include a wide range of pathological disorders characterized by damage of peripheral nerves. Among them, peripheral hereditary neuropathies are a group of frequent illnesses and early evolution. They have been named hereditary motor and sensory neuropathy (HMSN) or peripheral hereditary neuropathies type Charcot-Marie-Tooth (CMT). The most frequent types are CMT1, CMT2 and CMTX. Approximately 70% of the cases correspond to subtype CMT1A, associated with tandem duplication of a 1.5 Mb DNA fragment on chromosome 17p11.2-p12 that codifies the peripheral myelin protein PMP22. So far, there five different types of CMT (1,2,3,4,X) with approximately 32 subtypes, associated with more than 30 genes. Have been reported genetic heterogeneity and expression variability of the illness makes it necessary to carry on diagnostic strategies that integrate clinical study for determining genetic clinical history, family history, complete physical exploration, muscular strength, physical deformities, reflexes and sensitivity, and molecular studies allow detection of different types of mutations and help establish a correct diagnosis and an adequate genetic counseling. [ABSTRACT FROM AUTHOR]

Objective. To present the results of extra-articular surgery that corrects hammertoes and modifies weight bearing at the forefoot in patients with Charcot-Marie-Tooth. Material and methods. A longitudinal, prospective, descriptive, non-comparative study was carried out from October 2003 to December 2004 in patients with cavus midfoot. A total of 15 patients were enrolled, 4 females and 11 males; 23 feet, mean age was 18 years. Patients over age 35 and those with idiopathic cavus foot were excluded. Results. Followup at one year was performed using the Maryland scale, the AOFAS scale and the VAS, comparing the preoperative and postoperative scores, and the Wilcoxon sign as a comparative statistical test; complications occurred in 4 patients. Discussion. Results were similar to those reported by international studies and showed that osteotomy of metatarsal bases 2nd to 4th and dorsal osteotomy of the first metatarsal base help reduce the load placed on the forefoot and correct the cavus foot and the hammer toes. Conclusions. Surgery should focus mainly on the deformity and minimize complications through the proper selection of the surgical procedure to correct each of the components of the foot with Charcot-Marie-Tooth disease. [ABSTRACT FROM AUTHOR]

The atrophy muscular peronea or illness of CMT is the most common outlying neuropathy, with a prevalence of 1:2500. Main objective. Establish factors presage of the surgical procedures of the foot of patient with CMT. Material and methods. Thirty one patients were revised with the clinical diagnosis, electromyograph, and genetic making a total of 62 feet evaluating the march pre and postsurgically, analyzing the data with Χ². Results. Of the 31 revised patients 17 (54%) they are type-I; and 9 (29%) type-II; and 5 (16%) not classified; according to the sex 15 they are male (48%) and 16 female (52%). The most frequent deformity the foot was I dig varo (100%); the patients with but tendency to be operated the CMT-I was in 80%, the men presented a greater tendency to the surgery in 78% in the women's comparison in 67%. Among the 19-27 years the patient with CMT does have tendency to be operated in 81%. Did The age beginning of the symptomatology go to the 7.3 years; if the symptomatology appears among 1 to 4 years tendency it exists to be operated in 83%; if in the family some sick person meets with CMT it spreads to be operated in 79% and those that don't have sick relatives in 69%. Discussion and conclusion. according to this study they have bigger tendency to be operated the masculine patients with CMT-I, with beginning of their symptomatology early with family antecedents of CMT. Has worse presage the surgery in women with CMT-type II, with beginning of their symptomatology belatedly and without family antecedents of CMT. [ABSTRACT FROM AUTHOR]