ABSTRACT
A doença de Charcot-Marie-Tooth (CMT) é uma polineuropatia motora, sensitiva, hereditária e de predomínio distal. Os membros inferiores são os mais afetados e, ocasionalmente, há comprometimento dos membros superiores. Este estudo descreve a presença de disfagia orofaríngea e a intervenção fonoaudiológica em uma paciente de 58 anos com diagnóstico de CMT, encaminhada à avaliação fonoaudiológica devido a queixas na deglutição. Na avaliação inicial identificaram-se alterações, tanto de caráter estrutural quanto funcional, que resultaram em uma disfagia orofaríngea leve. Também se utilizou o Questionário de Qualidade de Vida na Disfagia para identificar o impacto na qualidade de vida da paciente. Após um mês de acompanhamento observou-se melhora dos sintomas e aumento do conforto e segurança ao deglutir. (AU)
Charcot-Marie-Tooth (CMT) disease is a motor and sensory, hereditary, distally predominant polyneuropathy. The lower limbs are most affected and, occasionally, there is upper limb impairment; however, presence of oropharyngeal dysphagia has been identified. The present study describes the findings and speech therapy intervention in a 58-year-old patient, with CMT diagnosis, referred to speech therapy evaluation due to swallowing complaints. In an initial evaluation, presence of structural and functional alterations, resulting in mild oropharyngeal dysphagia, was identified. The Swallowing Quality of Life questionnaire was also used to identify the impact of dysphagia in the patient's quality of life. After a month of follow-up, an improvement was observed in the presenting symptoms, as well as an increase in comfort and safety during swallowing. (AU)
Subject(s)
Humans , Female , Adult , Deglutition Disorders/etiology , Charcot-Marie-Tooth Disease/complications , Deglutition Disorders/therapyABSTRACT
OBJETIVO: Realizar uma revisão sobre o pé cavo, sua fisiopatologia, avaliação clínica, diagnósticos diferenciais com ênfase na doença de Charcot-Marie-Tooth e tratamento. MÉTODO: Revisão não sistemática de artigos abordando a fisiopatologia do pé cavo, avaliação clínica, diagnósticos diferenciais e tratamento. RESULTADOS E DISCUSSÃO: Foram utilizados 33 artigos de língua inglesa e 02 artigos em português para a confecção desta revisão. CONCLUSÃO: O pé cavo é geralmente secundário a doenças neurológicas, em especial a doença de Charcot-Marie-Tooth e raramente é originado por doenças não neurológicas. O diagnóstico etiológico do pé cavo permite um melhor tratamento, cirúrgico ou não, com adequada orientação ao paciente quanto ao prognóstico e eficácia da terapia.
OBJECTIVE: We realize a review about cavus foot, discussing pathophysiology, clinical evaluation, differential diagnosis with emphasis on Charcot-Marie-Tooth Disease and treatment. METHOD: We perform a non-systematic review of articles about cavus foot pathophysiology, physical examination, etiology and treatment. RESULTS AND DISCUSSION: We used 33 articles in english and 02 articles in portuguese for this review. CONCLUSION: The cavus foot is mostly a consequence of neurological etiologies, in particular Charcot-Marie-Tooth disease and rarely is caused by non-neurological diseases. The correct diagnosis allows better treatment, conservative or surgical, with appropriate guidance to patients in terms of prognosis and therapy effectiveness.
Subject(s)
Humans , Charcot-Marie-Tooth Disease/complications , Talipes Cavus/surgery , Talipes Cavus/diagnosis , Talipes Cavus/physiopathology , Review Literature as Topic , Diagnosis, Differential , Mobility Limitation , Talipes Cavus/etiologyABSTRACT
La neuropatía hereditaria motora y sensitiva presenta deformidad en los pies, como varo, cavo y dedos en garra. La enfermedad de Charcot-Marie-Tooth tiene descrita diversas técnicas quirúrgicas. Objetivo: Evaluar el resultado clínico y funcional de la osteotomía basal en "V" de los metatarsianos centrales con elevación del primer metatarsiano, osteotomía dorsal más osteotomía de cierre y elevación del quinto metatarsiano en los pacientes de Charcot-Marie-Tooth en un período de cinco años. Material y métodos: Es un estudio prospectivo, aleatorio, longitudinal, observacional y descriptivo en un período comprendido de cinco años. El total de pacientes que cumplieron los criterios de inclusión fueron 24, 16 del sexo masculino y 8 del sexo femenino. Con un total de 34 pies, a siete se les realizó el procedimiento quirúrgico en el pie derecho, a siete en el pie izquierdo y a 10 de manera bilateral, quedando un total de 34 pies tratados. Resultados: Se encontró un coeficiente de correlación de Pearson de -0.1 y una T de 1.71. Con ello se observó una diferencia estadística significativa entre las variables con lo que a los seis meses encontramos que el tratamiento quirúrgico tiene beneficios representativos. Conclusiones: El estudio realizado mostró un valor estadístico significativo tanto en la función, dolor y alineación en pacientes que se sometieron al tratamiento quirúrgico, comparado con el grado previo al evento quirúrgico, por lo que se recomienda continuar con esta técnica en todos los pacientes que sean portadores de pie cavo anterior.
Hereditary sensorimotor neuropathy involves foot deformities such as varus and cavus foot and claw toes. Several surgical techniques have been described to treat Charcot-Marie-Tooth disease. Objective: To assess the clinical and functional result of "V" basal osteotomy of the central metatarsals with elevation of the first metatarsal, dorsal osteotomy plus closing osteotomy, and elevation of the fifth metatarsal in Charcot-Marie-Tooth patients during a five-year period. Material and methods: Prospective, randomized, longitudinal, observational and descriptive study conducted during a five-year period. Twenty-four patients met the inclusion criteria: 16 males and 8 females. Seven underwent the surgical procedure in the right foot, seven in the left, and 10 in both feet, for a total of 34 feet treated. Results: The Pearson correlation coefficient was -0.1 and T = 1.71. A statistically significant difference was seen between the variables, which meant that, in the six-month follow-up, surgical treatment had representative benefits. Conclusions: The study found a statistically significant value for function, pain and alignment in patients who underwent surgical treatment, compared with their status prior to surgery. It is therefore recommended to continue using this technique in all patients presenting with anterior cavus foot.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Charcot-Marie-Tooth Disease/complications , Foot Deformities, Acquired/surgery , Metatarsal Bones/surgery , Osteotomy/methods , Follow-Up Studies , Foot Deformities, Acquired/etiology , Longitudinal Studies , Metatarsal Bones/pathology , Prospective Studies , Treatment OutcomeSubject(s)
Adult , Female , Humans , Charcot-Marie-Tooth Disease/complications , Hearing Disorders/etiology , Acoustic Impedance Tests , Evoked Potentials, Auditory, Brain Stem/physiology , Hearing Disorders/diagnosis , Hearing Disorders/physiopathology , Otoacoustic Emissions, Spontaneous/physiologyABSTRACT
We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12 (PMP22 gene duplication). A schwannoma is a benign encapsulated tumor originating from a Schwann cell. A case of hereditary neuropathy with liability to pressure palsies (HNPP) concurrent with schwannoma has been previously reported. Although it seems that the co-occurrence of CMT1A and schwannomas in a family would be the result of independent events, we could not completely ignore the possibility that the coincidence of two diseases might be due to a shared genetic background.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Charcot-Marie-Tooth Disease/complications , Chromosomes, Human, Pair 17 , Genetic Predisposition to Disease , Magnetic Resonance Imaging , Median Neuropathy/diagnosis , Myelin Proteins/genetics , Neurilemmoma/complications , Pedigree , Peripheral Nervous System Neoplasms/diagnosis , Spinal Cord Neoplasms/diagnosisABSTRACT
La enfermedad de Charcot-Marie-Tooth(CMT) es una neuropatía periférica hereditaria que resulta en atrofia muscular y pérdida de la propiocepción en las áreas afectadas. Existe controversia en cuanto a la técnica anestésica ideal a utilizarse en esta enfermedad. La situación basal de los pacientes, la urgencia quirúrgica y los riesgos asociados con las diferentes técnicas anestésicas deben ser tomados en consideración al momento de decidir la técnica a utilizar. Esta descripción de un caso clínico y posterior revisión bibliográfica tiene por objetivo orientar al anestesiólogo en el manejo de la paciente embarazada portadora de la enfermedad de CMT.
Subject(s)
Humans , Adult , Female , Pregnancy , Anesthesia, Obstetrical/methods , Anesthesia, Conduction/methods , Pregnancy Complications/prevention & control , Charcot-Marie-Tooth Disease/complications , Cesarean Section , Pregnancy Complications/etiology , Charcot-Marie-Tooth Disease/prevention & controlABSTRACT
Presentamos una paciente de sexo femenino de 42 años afectada de enfermedad de Charcot-Marie-Tooth. Hace dos años a nuestra paciente se le añade un cuadro de esclerodermia sistémica con insuficiencia pulmonar severa y síntomas típicamente dermatológicos. Los anticuerpos anti Scl 70 y anticentrómero fueron positivos. La anatomía patológica mostró además miositis y las características típicas de la esclerodermia. El tratamiento con corticoides, lidocaína y vasodilatadores periféricos no fue efectivo y nuestra paciente falleció