Results 1 to 10 of about 30,279 (192)

A study of physical activity comparing people with Charcot Marie Tooth disease to normal control subjects [PDF]

, 2016
PURPOSE: Charcot Marie Tooth disease (CMT) describes a group of hereditary neuropathies that present with distal weakness, wasting and sensory loss. Small studies indicate that people with CMT have reduced daily activity levels.
Dewar, Elizabeth, Grant, Robert, Hallsworth, Kate, Laura, Matilde, Moore, Sarah, Ploetz, Thomas, Pollard, Alexander, Ramdharry, Gita, Reilly, Mary, Trenell, Michael   +9 more
core   +3 more sources

Charcot–Marie–Tooth Disease

Journal of Rawalpindi Medical College, 2018
Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus.The disease illustrates a multitude of ...
Hafiz Muhammad Noman, Haleema Akbar et al
doaj   +5 more sources

Co-Existing Charcot-Marie-Tooth Disease Type II and Parkinson's Disease Linked to a Novel DNAjB2 Pathogenic Variant. [PDF]

J Cent Nerv Syst Dis
Lerint AN, Canenguez Benitez JS, Valaparla VL, Shanina E, Wu LJ.   +4 more
europepmc   +2 more sources

Co-occurrence of Charcot-Marie-Tooth disease type 2A and multiple sclerosis: A case report [PDF]

SAGE Open Medical Case Reports
The pathophysiology of genetic peripheral demyelinating and axonal neuropathies typically differs from that of central demyelinating diseases. However, case reports in the literature have demonstrated instances where these distinct disorders can manifest
Sara Habib, Nidhiben A. Anadani, Danny Samkutty   +2 more
doaj   +2 more sources

Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity. [PDF]

Neurosciences (Riyadh)
Alhazmi AS, Alhareeri AA, Alhawas AS, Jameel EW, Aleisa FS, Alqahtani MM, Almughni MJ, Almuqbil MA.   +7 more
europepmc   +3 more sources

Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease

Neural Regeneration Research, 2023
Schwann cells, the myelinating glia of the peripheral nervous system, wrap axons multiple times to build their myelin sheath. Myelin is of paramount importance for axonal integrity and fast axon potential propagation.
Nadège Hertzog, Claire Jacob
doaj   +1 more source

The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study [PDF]

Sleep Science, 2022
Introduction: Charcot-Marie-Tooth disease is an inherited neuropathy that presents two main forms - type 1 and type 2 -, differentiated by the speed of the nervous conduction.
Cynthia Coelho Souza, Julia Ribeiro da Silva Vallim, Eduardo Luis de Aquino Neves, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Adriano Antunes de Souza Araujo   +7 more
doaj   +1 more source

A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family

Egyptian Journal of Medical Human Genetics, 2023
Background Charcot–Marie–Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C and distal spinal muscular atrophy IV.
Mostafa Neissi, Hadideh Mabudi, Adnan Issa Al-Badran, Javad Mohammadi-Asl, Raed Abdulelah Al-Badran   +4 more
doaj   +1 more source

Charcot-Marie-Tooth-1A and sciatic nerve crush rat models: insights from proteomics

Neural Regeneration Research, 2023
The sensorimotor and histological aspects of peripheral neuropathies were already studied by our team in two rat models: the sciatic nerve crush and the Charcot-Marie-Tooth-1A disease.
Zeina Msheik, Stephanie Durand, Emilie Pinault, Martial Caillaud, Laetitia Vignaud, Fabrice Billet, Mohamed El Massry, Alexis Desmouliere   +7 more
doaj   +1 more source

Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

Iranian Journal of Public Health, 2020
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI, Dariush D. FARHUD, Karim NAYERNIA, Hossein SADIGHI, Marjan ZARIF-YEGANEH   +4 more
doaj   +1 more source