Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neuromuscular diseases causing progressive muscle weakness; contracture; deformity in the feet, legs, and hands; and impairments of ambulation and handgrip. Reduced physical ability can be attributed not only to the disease but also to physical deconditioning. Previously, most physicians in the field of rehabilitation were anxious about the hypothesis of overwork weakness in CMT, and did not conduct intensive exercise programs for patients with CMT. However, recent studies have reported that progressive resistance strengthening programs for lower extremities are feasible, safe, beneficial, and improve exercise intolerance and undue fatigue in patients with CMT. Although the improvement in exercise tolerance may be partly due to the reversal of deconditioning effect of related sedentary lifestyle, progressive resistance training and physical fitness can improve walking function, activities of daily living, and subjective perception of pain and fatigue in patients with CMT. To increase the daily physical function, some studies described the potential benefits of ankle-foot orthoses (AFOs); however, no control study supported it. So far, the training programs on CMT have been dependent on the exercise programs for able-bodied individuals. To increase the effects of rehabilitation, optimal programs that combine the training protocol and AFO strategies will have to be designed for patients with CMT.
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http://dx.doi.org/10.11477/mf.1416200347 | DOI Listing |
Turk J Pediatr
December 2024
Department of Pediatric Neurology, University of Health Sciences, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Türkiye.
Background: This study aims to compare the posterior ocular structure parameters in children with migraine without aura (MWA), tension-type headache (TTH), and a healthy control group.
Methods: The study included 31 patients with MWA, 29 patients with TTH, and 38 healthy controls between 6 and 18 years of age. For all participants, the detailed eye examination and measurements including peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vessel densities and foveal avascular zone (FAZ) parameters measured by optical coherence tomography (OCT) and OCT-angiography (OCTA), were obtained from the patient files.
Int J Retina Vitreous
January 2025
Army Hospital Research & Referral, Delhi Cantt, New Delhi, Delhi, 110010, India.
Background: Management of Diabetic Macular edema (DME) requires repeated injections. Therefore newer Anti-VEGFs like Brolucizumab with longer durability have been introduced. We compared two different dosages of Brolucizumab, 6.
View Article and Find Full Text PDFPathogenic variants of GDAP1 cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France.
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
J Fr Ophtalmol
January 2025
Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany.
Purpose: To investigate the morphologic and functional outcomes of nanosecond subthreshold (ST) laser treatment for patients with chronic central serous chorioretinopathy (CSC).
Methods: In this prospective study, 44 patients were treated with the ST nanosecond laser with a follow-up period of 12 months. All target variables were measured at 1, 3, 6 and 12 months after the first laser treatment.
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