Contralateral force irradiation for the activation of tibialis anterior muscle in carriers of Charcot-Marie-Tooth disease: effect of PNF intervention program [PDF]
OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante ...
ARAUJO, João E. +5 more
core +1 more source
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis +2 more
doaj
The experience of falls and balance impairment for people with Charcot-Marie-Tooth disease [PDF]
People with Charcot Marie Tooth disease (CMT) have impairments of balance and may fall more frequently than those without the condition. This qualitative study aimed to explore the experiences of falling and poor balance through focus group interviews.
Marsden, Jonathan F +3 more
core +2 more sources
Hand Involvement in Charcot-Marie-Tooth Disease 1A
Hand strength, function and disease-related symptoms were determined in 84 children, aged 2-16 years, with Charcot-Marie-Tooth disease type 1A (CMT1A) at University of Sydney, Children’s Hospital at Westmead, and Royal Children’s Hospital, Parkville ...
J Gordon Millichap
doaj +1 more source
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease [PDF]
Mutations in the mitochondrial fission factor GDAP1 are associated with severe peripheral neuropathies, but why the CNS remains unaffected is unclear. Using a Gdap1−/− mouse, Niemann et al.
Angst, Brigitte +15 more
core
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis [PDF]
BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease.
Bacon, C +26 more
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Enfermedad de Charcot-Marie-Tooth en Pediatría. Eficacia del tratamiento físico [PDF]
Fundamento: La enfermedad de Charcot-Marie-Tooth o neuropatía hereditaria sensitivo-motora, es la neuropatía hereditaria primaria más frecuente, con una prevalencia de 1 por cada 2500 habitantes. La determinan mutaciones específicas de uno o varios genes
Olasagasti Burgaña, Maialen
core
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications [PDF]
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms.
Ahmadinejad, Fereshteh. +3 more
core
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease [PDF]
We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT,
Berger, Philipp +2 more
core
Болестта на Charcot-Marie-Tooth (CMT), известна също като наследствена моторна и сетивна невропатия (НМСН) е група от наследствени моторни и сензорни периферни невропатии и най-често срещаното наследствено невромускулно заболяване.
Ognyan Asenov +3 more
doaj +1 more source

