scholarly journals Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
C. Lane Anzalone ◽  
Sarah Nuhanovic ◽  
Amy P. Olund ◽  
Matthew L. Carlson
Keyword(s):  
Case Report ◽  
Cochlear Implant ◽  
Cochlear Implantation ◽  
English Literature ◽  
Lateral Wall ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Disease Case ◽  
Patient Reported

Introduction. Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy associated with motor and sensory impairment and can result in profound sensorineural hearing loss (SNHL). Currently, the role of cochlear implantation in the setting of CMT and other progressive peripheral neurodegenerative disorders is not well established. Methods. Case report and review of the English literature. Results. A 70-year-old male with CMT was referred for evaluation of progressive asymmetric SNHL and reported a 15-year duration of deafness involving the left ear. Audiometric testing confirmed profound SNHL in the left ear, while the right ear exhibited moderate-to-severe SNHL. Left-sided cochlear implantation was performed using a conventional length lateral wall electrode. Intraoperative device testing found normal impedance levels throughout the array; however, electrically evoked auditory potentials were absent on all electrodes. Upon initial activation 3 weeks after surgery, the patient reported excellent access to sound in the cochlear implant-only condition. He has made good progress at each subsequent visit; speech perception testing after seven months showed improvement from 0% to 32% on AzBio sentence and 53% on CNC phoneme testing in the cochlear implant-only condition. Conclusion. We report the third case of cochlear implantation in a patient with CMT. SNHL in CMT is hypothesized to result from disruption of synchronous activity of the cochlear nerve. In patients with CMT, cochlear implantation may reconstitute synchronous neural activity by way of supraphysiological electrical stimulation. Our results corroborate two earlier reports that cochlear implantation is a viable option for rehabilitation of SNHL in this unique subset of patients.

scholarly journals Membrane metalloendopeptidase (MME) gene mutation associated type 2t late-onset Charcot-Marie-Tooth disease: Case report

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marcos RG de Freitas ◽  
Marco Orsini ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Late Onset ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Disease Case ◽  
Tooth Disease

scholarly journals Dejerine-Sottas disease: a case report

2003 ◽  
Vol 121 (5) ◽  
pp. 207-209
Author(s):  
Jaqueline Luvisotto Marinho ◽  
José Luis Alonso Nieto ◽  
Edenilson Eduardo Calore
Keyword(s):  
Case Report ◽  
Schwann Cells ◽  
Sensory Nerve ◽  
Nerve Biopsy ◽  
Sural Nerve Biopsy ◽  
Lower Limbs ◽  
Motor Deficit ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth Disease ◽  
Disease Case

CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.

Charcot-Marie-Tooth Disease Complicating Type 2 Diabetes

2011 ◽  
Vol 101 (4) ◽  
pp. 349-352 ◽  
Author(s):  
Htet Htet Ne Win ◽  
Colin Davenport ◽  
Siobhan Delaney ◽  
Margaret Kelly ◽  
Diarmuid Smith
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Case Report ◽  
Hereditary Neuropathy ◽  
Old Irish ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Although both conditions are relatively common, there are very few descriptions of type 2 diabetes mellitus coexisting with Charcot-Marie-Tooth disease (CMT). This case report and literature review describes a 53-year-old Irish man who presented with type 2 diabetes and significant neuropathy, and who was subsequently diagnosed with CMT type 1A. This case report will also discuss how to differentiate diabetic neuropathy from a progressive hereditary neuropathy and how coexistence aggravates the progression of neuropathy thus necessitating early diagnosis. (J Am Podiatr Med Assoc 101(4): 349–352, 2011)

scholarly journals Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marco Orsini ◽  
Acary Souza Bulle Oliveira ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant’ Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Rare Form ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type Iv ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth disease and posterior scleritis: a case report

2000 ◽  
Vol 63 (5) ◽  
pp. 413-415
Author(s):  
Elisabeth N. Martins ◽  
André C. Branco ◽  
Lênio S. Alvarenga ◽  
Fausto Uno ◽  
Nilva B. Moraes ◽  
...  
Keyword(s):  
Case Report ◽  
Posterior Scleritis ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A

2021 ◽  
Author(s):  
Helen AZEVEDO ◽  
Henrique COSTA ◽  
Eduardo DAVIDOVICH ◽  
Camila PUPE ◽  
Osvaldo José Moreira NASCIMENTO
Keyword(s):  
Neuropathic Pain ◽  
Clinical Evaluation ◽  
Disease Type ◽  
Moderate Intensity ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Clinical Criteria ◽  
Charcot Marie Tooth Disease ◽  
Sf 36 ◽  
Tooth Disease

ABSTRACT Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. Objective: To investigate the prevalence and characteristics of pain in patients with CMT1A. Methods: Nineteen patients with a diagnosis of CMT1A were evaluated between September 2018 and October 2019, and other causes of neuropathy were ruled out. The following tools were used for the pain assessment: neurological assessment, LANSS, DN4, clinical evaluation, VAS, CMTNS2 and SF-36. Statistical analysis was performed using prevalence analysis, t test, chi-square test and Spearman's rho. Results: The prevalence of pain was 84.2% in the sample of this study, with moderate intensity and nociceptive characteristics according to the LANSS scale (75%) and clinical evaluation (50%), but differing from DN4, which found neuropathic pain in the majority of the patients (56.2%). Mixed pain was also observed in 43.7% of the patients, according to clinical criteria. There was a statistically significant correlation between pain intensity and SF-36, thus demonstrating that the lower the pain was, the lower the impairment was, in all domains. Conclusion: Pain is a prevalent and important symptom in CMT1A, with moderate intensity and nociceptive characteristics according to two tools, but neuropathic pain is also present, and there may even be a mixed pattern of pain. The correlation of the pain with SF-36 suggests that pain relief could provide improvements to the quality of life of these individuals.

scholarly journals Immediate effects of using ankle-foot orthoses in the kinematics of gait and in the balance reactions in Charcot-Marie-Tooth disease

2014 ◽  
Vol 21 (1) ◽  
pp. 87-93
Author(s):  
Rouse Barbosa Pereira ◽  
Lílian Ramiro Felício ◽  
Arthur de Sá Ferreira ◽  
Sara Lúcia de Menezes ◽  
Marcos Raimundo Gomes de Freitas ◽  
...  
Keyword(s):  
Ankle Joint ◽  
Gait Cycle ◽  
Lower Limbs ◽  
Foot Drop ◽  
Hereditary Neuropathy ◽  
Significant Interaction Effect ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Wilks Lambda ◽  
Dynamic Gait Index

The Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy with progressive distal muscle atrophy and weakness, mainly in lower limbs, that evolves limiting the gait and balance. The objective of the study was to analyse the immediate effects of using Ankle-Foot Orthosis (AFO) in the gait's kinematics and balance in patients with CMT. Nine individuals were evaluated by Tinetti scales and Dynamic Gait Index (DGI) and gait's kinematics parameters through the motion capturing system. These evaluations were done before and during the use of AFO. Two-Way repeated analysis of variance was done to try the main or interaction effects related to "orthoses" and "repetition". A significant interaction effect was observed between the gait cycle and use the AFO to the average velocity (Wilks' Lambda=0.156, p=0.030, η2=0.844) like significant main effects in the ankle joint to the gait cycle (Wilks' Lambda=0.091, p=0.008, η2=0.909) and the use of AFO (Wilks' Lambda=0.444, p=0.013, η2=0.556). It was observed a significant change in the DGI scale during the use of AFO (p<0.05). The use of AFO promoted immediate effects on gait kinematics and in balance reactions. The results suggest that the use of AFO is an efficient strategy to stabilize the ankle joint, besides avoiding foot drop in patients with CMT.

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