Charcot-Marie-Tooth Disease, Type 1F

Last update 08 May 2025

Basic Info

Synonyms

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F

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Introduction

A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2).

Clinical Trials associated with Charcot-Marie-Tooth Disease, Type 1F

NCT05902351

/ RecruitingNot Applicable

Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease

The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.
Participants will be asked to complete a Natural History Survey.

Start Date01 Nov 2013

Sponsor / Collaborator

Hereditary Neuropathy Foundation, Inc.

100 Clinical Results associated with Charcot-Marie-Tooth Disease, Type 1F

100 Translational Medicine associated with Charcot-Marie-Tooth Disease, Type 1F

0 Patents (Medical) associated with Charcot-Marie-Tooth Disease, Type 1F

Literatures (Medical) associated with Charcot-Marie-Tooth Disease, Type 1F

01 Mar 2025·Foot & Ankle International

Talar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet

Article

Author: Lenz, Amy L. ; de Cesar Netto, Cesar ; Benna, Jacob C. ; Elhabian, Shireen ; Nelson, Jayson R. ; Requist, Melissa R. ; Beals, Timothy C. ; Peterson, Andrew C.

Background:Charcot-Marie-Tooth disease (CMT), a common inherited neurologic disorder, significantly impacts the morphology of foot bones, particularly the talus. The disease has been classified into types based on specific mutations, with the most common being CMT type 1 (CMT1; demyelinating) and CMT type 2 (CMT2; axonal). However, the specific osseous morphologic variations in CMT patients and their major genetic subgroups remain insufficiently understood, posing challenges in clinical management and surgical intervention.Methods:This study analyzed talar morphology in individuals with CMT compared with a healthy control group, employing a single-bone statistical shape model and talar neck offset angle measurements. Participants included 18 CMT individuals (yielding 29 tali) and 43 healthy controls. For individuals with CMT, the average age at diagnosis was 36.5 ± 19.8 years, with a mean interval of 8.6 years between diagnosis and imaging. Talar morphology was evaluated using weightbearing computed tomography and subsequent morphologic and angular analysis.Results:Differences were observed in talar morphology between CMT and healthy individuals. Notably, CMT1 and CMT2 tali exhibited a flatter talar dome and more medial talar head and neck compared with controls. Additionally, the CMT1 and CMT2 subgroups both had a more medially oriented talar neck based on the talar neck offset angle compared with the controls.Conclusion:The findings illustrate significant morphologic variations in the talus of CMT patients, indicating the need for type-specific clinical approaches in treating CMT-related foot deformities. Understanding these talar variations is crucial for tailoring surgical techniques and orthotic designs, and developing effective rehabilitation protocols for individuals with CMT, potentially improving patient care and outcomes.

01 Dec 2024·Journal of the Peripheral Nervous System

Physical exercise halts further functional decline in an animal model for Charcot–Marie–Tooth disease 1X at an advanced disease stage

Article

Author: Yépez, Maria Grijalva ; Martini, Rudolf ; Klein, Dennis

AbstractBackground and AimsCharcot–Marie–Tooth (CMT) type 1 neuropathies are the most common inherited diseases of the peripheral nervous system. Although more than 100 causative genes have been identified so far, therapeutic options are still missing. We could previously identify that early‐onset physical exercise (voluntary wheel running, VWR) dampens peripheral nerve inflammation, improves neuropathological alterations, and clinical outcome in Cx32def mice, a model for CMT1X. We here investigate the clinical and histopathological effect of late‐onset exercise in Cx32def mice at an advanced disease stage.MethodsNine‐month‐old Cx32def mice were allowed to run for 4 days/week on a commercially available running wheel for 3 months, with timely limited access to running wheels, representing a running distance of ~2000 m. Control mutants had no access to running wheels. Afterward, mice were investigated by distinct functional tests and by immunohistochemical and electron microscopical techniques.ResultsWe found that late‐onset physical exercise (late VWRlim) prevented the robust functional decline in 12‐month‐old Cx32def mice. This was accompanied by improved neuromuscular innervation of distal muscles and axonal preservation in femoral quadriceps nerves. In contrast to a “pre‐symptomatic” start of physical exercise in Cx32def mice, late‐onset VWR did not alter nerve inflammation and myelin thickness at 12 months of age.InterpretationWe conclude that VWR has robust beneficial effects on nerve function in Cx32def mice, even when applied at a progressed disease stage. These results have important translational implications, suggesting that physical exercise might be an effective treatment option for CMT1 patients, even when disease symptoms have already progressed.

01 Jul 2024·European Archives of Oto-Rhino-Laryngology

Cochlear implantation in patients with Charcot–Marie–Tooth disease: two cases with a review of the literature

Review

Author: Moon, Il Joon ; Cho, Heechun ; Song, Bokhyun ; Yun, Jason

PURPOSETo report two cases of bilateral cochlear implantation (CI) in Charcot-Marie-Tooth disease (CMT) patients with novel mutations. Furthermore, we conducted a detailed literature review on the profile and outcomes of CI in this uncommon clinical circumstance.CASE PRESENTATIONCase 1 involved a 25-year-old woman who was referred for sudden hearing loss (HL) in her left ear and had a 7-year history of HL in her right ear. She was diagnosed with CMT type 1 with a thymidine phosphorylase gene mutation. CI was performed on her left side because her hearing gradually worsened to deafness in both ears. At 3 months post-operation, her speech discrimination score without lip-reading improved from 0 to 100%. She underwent a second CI on her right ear 6 months after her first CI. Two years from her first operation, the speech discrimination score was 100%. Case 2 received her first CI on her right ear at the age of nine for her bilateral HL. She was diagnosed with CMT type 2 with a Twinkle mitochondrial DNA helicase gene mutation. Preoperatively, the speech discrimination score in both ear-aided conditions was 70%. At the 7-year post-operation follow-up, the speech discrimination score was 76%. A second CI was performed due to decreasing hearing ability in her left ear. The speech discrimination score showed 100% at 7 months after the second CI.CONCLUSIONSCI is an effective hearing rehabilitation option for CMT patients with severe-to-profound SNHL. Neuro-otologists should consider CI as a treatment option, even though hearing loss in CMT is associated with auditory neuropathy spectrum disease (ANSD).

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Charcot-Marie-Tooth Disease, Type 1F

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