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About 2,065 results

ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  793 results

Variants of uncertain significance in the era of next-generation sequencing.
https://doi.org/10.1097/JXX.0000000000000745
Journal of the American Association of Nurse Practitioners; Levkova M, Stoyanova M et. al.

Jun 23rd, 2022 - Next-generation sequencing (NGS) is now widely used in diagnosing rare diseases. However, it has some limitations, such as variants of uncertain significance (VUS). This can present difficulties even for nurse practitioners involved in clinical ge...

Charcot-Marie-Tooth disease in Africa.
https://doi.org/10.1111/jns.12488
Journal of the Peripheral Nervous System : JPNS; Züchner S, Pareyson D

Jun 8th, 2022 - Charcot-Marie-Tooth disease in Africa.|2022|Züchner S,Pareyson D,|epidemiology,epidemiology,genetics,

Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 muta...
https://doi.org/10.1016/j.nmd.2022.05.002
Neuromuscular Disorders : NMD; Lei L, Zhiqiang L et. al.

Jun 7th, 2022 - Autosomal recessive Charcot-Marie-Tooth disease Type 2S (AR-CMT2S) caused by IGHMBP2 mutation was first reported in 2014, and an increasing number of cases have been reported in the past eight years. We detected 15 distinct IGHMBP2 mutations among...

Nerve Sonography in Charcot-Marie-Tooth Disease: A Systematic Review and Meta-analysis ...
https://doi.org/10.1016/j.ultrasmedbio.2022.04.220
Ultrasound in Medicine & Biology; Abdelnaby R, Elgenidy A et. al.

Jun 7th, 2022 - Because of the insidious character and variations in presenting symptoms, Charcot-Marie-Tooth (CMT) disease is challenging to diagnose in children. Diagnosis is based on clinical and nerve conduction studies, as well as genetic examination. Theref...

Markedly asymmetric facial nerve hypertrophy simulating a schwannoma in a patient with ...
https://doi.org/10.1016/j.amjoto.2022.103513
American Journal of Otolaryngology; Johnson BJ, Diehn FE et. al.

Jun 1st, 2022 - Markedly asymmetric facial nerve hypertrophy simulating a schwannoma in a patient with Charcot-Marie-Tooth disease.|2022|Johnson BJ,Diehn FE,Nagelschneider AA,Tasche KK,Carlson ML,|complications,diagnosis,complications,diagnostic imaging,surgery,

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Clinicaltrials.gov  7 results

The Impact of Charcot-Marie-Tooth Disease in the Real World
https://clinicaltrials.gov/ct2/show/NCT03782883

Apr 29th, 2022 - The registry uses Vitaccess' digital real-world evidence platform and has been developed in collaboration with CMT experts, Patient Advocacy Organizations (PAOs) and the biopharmaceutical company Pharnext. Eligible participants install a study app...

Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
https://clinicaltrials.gov/ct2/show/NCT05142059

Dec 20th, 2021 - Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of diffe...

Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
https://clinicaltrials.gov/ct2/show/NCT03966287

Nov 5th, 2020 - Hereditary neuropathies are a group of clinically and genetically heterogeneous diseases of the peripheral nervous system. Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is the most common form of ...

Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
https://clinicaltrials.gov/ct2/show/NCT01750710

Oct 9th, 2019 - Patients suffering from CMT 1A neuropathy will be invited to go through a series of tests such as: Electromyography Isokinetic test Podiatric assessment Functional evaluations: Hand dexterity, limbs muscles strength Quality of life assessment with...

Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
https://clinicaltrials.gov/ct2/show/NCT02600286

May 25th, 2018 - The disease Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy, for which no treatment has proved its effectiveness. It is autosomal dominant, associated with a duplication of the chromosome 17p11.2 regi...

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News  17 results

Not your ordinary neuropathy
https://www.mdedge.com/internalmedicine/article/241103/diabetes/not-your-ordinary-neuropathy
Douglas S. Paauw, MD

Jun 4th, 2021 - A 56-year-old woman with type 2 diabetes presents for evaluation of painful neuropathy. She has had a diagnosis of type 2 diabetes for the past 4 years.

Theatrics, Hypnosis, and the Roots of Modern Neurology
https://www.medscape.com/viewarticle/947504

Mar 15th, 2021 - "Symptoms, then, are in reality nothing but a cry from suffering organs" – Jean-Martin Charcot Nearly 130 years after his death, Jean-Martin Charcot's name still resonates with modern neurologists. The famed 19th century French physician made myri...

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/internalmedicine/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light?channel=53
Tara Haelle

Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/neurology/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light
Tara Haelle

Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.

Patients with Charcot-Marie-Tooth disease describe wide range of care
https://www.mdedge.com/neurology/article/210443/neuromuscular-disorders/patients-charcot-marie-tooth-disease-describe-wide
Jake Remaly

Oct 19th, 2019 - AUSTIN, TEX. – Patients with Charcot-Marie-Tooth disease (CMT) receive a range of supportive care that includes physical therapy, surgery, medications, orthoses, and walking aids, according to patient-reported data presented at the annual meeting.

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Patient Education  9 results see all →