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About 3,754 results

ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  1,863 results

Performance fatigability during gait in adults with Charcot-Marie-Tooth disease.
https://doi.org/10.1016/j.gaitpost.2021.02.002
Gait & Posture; Peterson DS, Moore A et. al.

Feb 22nd, 2021 - Fatigue is common in people with Charcot-Marie-Tooth (pwCMT) disease. However, no studies have characterized performance fatigability during gait in this population. Characterizing performance fatigability during gait, and assessing its relation t...

The impact of orthoses on gait in children with Charcot-Marie-Tooth disease.
https://doi.org/10.1016/j.gaitpost.2021.02.005
Gait & Posture; Õunpuu S, Garibay E et. al.

Feb 21st, 2021 - Charcot-Marie-Tooth disease (CMT) results in distal muscle weakness that leads to gait difficulties in both the stance and swing phases, thus limiting function in the community. A primary purpose of ankle foot orthoses (AFOs) is to improve gait fu...

Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneurop...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7879641
BMC Neurology; Lin X, Yarlas A et. al.

Feb 13th, 2021 - We aimed to compare neuropathic progression rate between hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and other peripheral neuropathies, including diabetic peripheral neuropathy (DPN) and Charcot-Marie-Tooth disease (CMT). L...

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.
https://doi.org/10.1016/j.neubiorev.2021.02.009
Neuroscience and Biobehavioral Reviews; Tucker-Bartley A, Lemme J et. al.

Feb 13th, 2021 - For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain a...

LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874611
Orphanet Journal of Rare Diseases; Palaima P, Berciano J et. al.

Feb 11th, 2021 - In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by relat...

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Clinicaltrials.gov  1,877 results

Performance fatigability during gait in adults with Charcot-Marie-Tooth disease.
https://doi.org/10.1016/j.gaitpost.2021.02.002
Gait & Posture; Peterson DS, Moore A et. al.

Feb 22nd, 2021 - Fatigue is common in people with Charcot-Marie-Tooth (pwCMT) disease. However, no studies have characterized performance fatigability during gait in this population. Characterizing performance fatigability during gait, and assessing its relation t...

The impact of orthoses on gait in children with Charcot-Marie-Tooth disease.
https://doi.org/10.1016/j.gaitpost.2021.02.005
Gait & Posture; Õunpuu S, Garibay E et. al.

Feb 21st, 2021 - Charcot-Marie-Tooth disease (CMT) results in distal muscle weakness that leads to gait difficulties in both the stance and swing phases, thus limiting function in the community. A primary purpose of ankle foot orthoses (AFOs) is to improve gait fu...

Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneurop...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7879641
BMC Neurology; Lin X, Yarlas A et. al.

Feb 13th, 2021 - We aimed to compare neuropathic progression rate between hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and other peripheral neuropathies, including diabetic peripheral neuropathy (DPN) and Charcot-Marie-Tooth disease (CMT). L...

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.
https://doi.org/10.1016/j.neubiorev.2021.02.009
Neuroscience and Biobehavioral Reviews; Tucker-Bartley A, Lemme J et. al.

Feb 13th, 2021 - For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain a...

LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874611
Orphanet Journal of Rare Diseases; Palaima P, Berciano J et. al.

Feb 11th, 2021 - In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by relat...

see more →

News  9 results

Patients with Charcot-Marie-Tooth disease describe wide range of care
https://www.mdedge.com/jcomjournal/article/210443/neuromuscular-disorders/patients-charcot-marie-tooth-disease-describe?channel=302
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.

Hereditary Neuropathy Foundation Announces Newest Center of Excellence
https://www.mdedge.com/clinicianreviews/article/120375/rare-diseases/hereditary-neuropathy-foundation-announces-newest

Dec 9th, 2016 - Hackensack University Medical Center has been designated a center of excellence by the Hereditary Neuropathy Foundation. The designation was made as a result of the medical center’s clinical care, community engagement, research, and educate relate.

Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures
https://www.mdedge.com/surgery/article/105624/rheumatology/phenotype-hnpp-hereditary-neuropathy-liability-pressure-palsies?channel=264
Kramer M, Ly A et. al.

Jan 7th, 2016 - PMP22 is a tetra-span membrane protein primarily expressed in myelinating Schwann cells. Heterozygous deletion of the PMP22 gene (1 copy) causes HNPP (hereditary neuropathy with liability to pressure palsies).

Multigene Testing Identifies Charcot-Marie-Tooth Disease and Related Disorders
https://www.mdedge.com/neurology/article/101649/rare-diseases/multigene-testing-identifies-charcot-marie-tooth-disease-and

Aug 3rd, 2015 - WASHINGTON, DC—Inherited neuropathies such as Charcot-Marie-Tooth disease (CMT) can be diagnosed effectively through multigene panels, according to results presented at the 67th Annual Meeting of the American Academy of Neurology. The findings ind.

Ascorbic Acid in Charcot-Marie-Tooth-1A
https://www.medscape.com/viewarticle/810638

Sep 15th, 2013 - High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A: Results of a Randomized, Double-Masked, Controlled Trial Lewis RA, McDermott MP, Herrmann DN, et al, for the Muscle Study Group JAMA Neurol. 2013;70:981-987 Study Summary ...

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Patient Education  5 results see all →