Differences in respiratory function, depressive symptoms and quality of life between patients with hereditary motor and sensory neuropathy and myotonic dystrophy undergoing maintenance rehabilitation - Lajlar N, Vidmar G, Mohari ć M.
Hereditary motor and sensory neuropathy (HMSN) and myotonic dystrophy (MD) are chronic neuromuscular diseases that cause progressive muscular impairment and impact patient's quality of life. Conflicting findings in existing literature underscore the need f... (Source: SafetyLit)
Source: SafetyLit - December 18, 2023 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
Consumer Health: What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease, also called hereditary motor and sensory neuropathy, is a group of inherited disorders that affects an estimated 150,000 people in the U.S., according to the National Library of Medicine. Charcot-Marie-Tooth disease causes nerve damage mostly in the peripheral nerves of the arms and legs. This nerve damage results in smaller, weaker muscles. You also may experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities, such as hammertoes and high arches,… (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - March 4, 2022 Category: Databases & Libraries Source Type: news
What are Treatments for Hallux Valgus
Discussion
Hallux valgus (HV) is commonly called a bunion. The word bunion comes from Greek meaning “turnip.” The great toe is seen to be pronated with a prominent first metatarsal head which can be swollen and painful, which can look like a turnip. They are also called metatarsus primus varus, or metatarsus primus adductus. Angulation can occur in other joints such as at the 5th metatarsal head and is sometimes called “bunionette” or tailor’s bunion. The cause “…for the pathological deformity is considered to be metatarsus primus varus… but there often are other anatomic abn...
Source: PediatricEducation.org - February 7, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
Specialized technique captures unique protein structures in neuropathy disorders
(University of Michigan) Charcot Marie Tooth and Dejerine-Sottas syndrome are groups of diseases that involve the breakdown of the myelin sheath covering nerve axons. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - April 20, 2021 Category: Biology Source Type: news
Certification of a pilot with Charcot-Marie-Tooth disease - Jagathesan T, OBrien M, Rattray A.
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a rare hereditary motor and sensory neuropathy. This is a report of a pilot with this condition with a discussion of the challenges for the regulator in the assessment for medical certification of pilots wit... (Source: SafetyLit)
Source: SafetyLit - January 25, 2021 Category: International Medicine & Public Health Tags: Distraction, Fatigue, Chronobiology, Vigilance, Workload Source Type: news
How Does Charcot Marie Tooth Disease Affect the Bo
dy? (Source: eMedicineHealth.com)
Source: eMedicineHealth.com - June 10, 2020 Category: General Medicine Source Type: news
Discovery of important molecular mechanism of Charcot-Marie-Tooth disease
(Forschungsverbund Berlin) Researchers from the Leibniz-Forschungsinstitut f ü r Molekulare Pharmakologie (FMP) in Berlin, in collaboration with colleagues from Milan, Paris and Mexico, have been able to highlight a new molecular mechanism of the Charcot-Marie-Tooth disease: According to their discovery, the protein Rab35 and the mTOR signaling pathway it regulates play a central role in the formation of myelin sheaths in the peripheral nervous system. First in-vivo experiments show that new therapies can be derived from the findings. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 8, 2020 Category: International Medicine & Public Health Source Type: news
Belgian-American research team uncovers a new mechanism of neurodegeneration
(VIB (the Flanders Institute for Biotechnology)) Charcot-Marie-Tooth disease (CMT) is an inherited neurodegenerative condition that affects 1 in 2500 individuals. Currently, however, it is still lacking effective treatment options. New research has demonstrated that a class of cytoplasmic enzymes called tRNA synthetases can cause CMT by interfering with the gene transcription in the nucleus. This breakthrough is the result of an international academic collaboration, where scientists from the VIB-UAntwerp Center for Molecular Neurology and the Scripps Research Institute were the driving force. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - November 21, 2019 Category: Biology Source Type: news
For first time, potential treatment path becomes clear for subtype of Charcot-Marie-Tooth disease
(Scripps Research Institute) An unexpected finding from the Scripps Research laboratory of Xiang-Lei Yang, PhD, has illuminated a potential strategy for treating the inherited neurological disease Charcot-Marie-Tooth, for which there is no approved medicine today. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - November 7, 2019 Category: Biology Source Type: news
Driving simulator performance in Charcot-Marie-Tooth disease type 1A - Jerath NU, Aksan N, Dawson JD, Rizzo M, Uc EY, Shy ME.
This study evaluates driving ability in those with Charcot-Marie-Tooth Disease Type 1A, a hereditary peripheral neuropathy.
Methods: Individuals with Charcot-Marie-Tooth Disease Type 1A (n = 18, age = 42 ± 7) and controls (n = 19; age = ... (Source: SafetyLit)
Source: SafetyLit - October 26, 2019 Category: International Medicine & Public Health Tags: Distraction, Fatigue, Chronobiology, Vigilance, Workload Source Type: news
New Grants will Accelerate Clinical Trials in Rare Neurological Disorders
Two new grants from the National Institute of Neurological Disorders and Stroke (NINDS) will pave the way for new treatments for neuronal ceroid lipofuscinoses and Charcot Marie Tooth diseases, two groups of rare neurological disorders. The funding, which totals $10 million, will support new research programs led by University of Rochester Medical Center (URMC) neurologists Erika Augustine, M.D., and David Herrmann, M.B.B.Ch., and involve an international team of scientists and clinicians. (Source: University of Rochester Medical Center Press Releases)
Source: University of Rochester Medical Center Press Releases - June 26, 2019 Category: Universities & Medical Training Authors: University of Rochester Medical Center Source Type: news
Researchers identify potential modifier genes in patients with charcot-marie-tooth disease
(IOS Press) Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder affecting peripheral motor and/or sensory nerves in humans. Monogenic disorders like CMT1A, CMT's most prevalent subtype, are caused by a single gene defect. However, its clinical presentation and severity can vary widely, leading doctors to wonder what factors might be responsible for these differences. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 18, 2019 Category: International Medicine & Public Health Source Type: news
Novel Drug Eases Charcot-Marie-Tooth Disability in Phase 3 Trial Novel Drug Eases Charcot-Marie-Tooth Disability in Phase 3 Trial
A novel, fixed-dose, three-drug combination therapy has provided"first evidence of meaningful improvement" in patients with Charcot-Marie-Tooth Type 1A disease in a new phase 3 trial.Medscape Medical News (Source: Medscape Neurology and Neurosurgery Headlines)
Source: Medscape Neurology and Neurosurgery Headlines - May 7, 2019 Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news
Study: Protein key to charcot-marie-tooth, other nerve diseases
(Cedars-Sinai Medical Center) A new study provides critical insight into a little-known, yet relatively common, inherited neurological condition called Charcot-Marie-Tooth disease. The findings point to a pathway to possible treatments for this disease and better understanding of other neurodegenerative disorders, including Alzheimer's disease, that affect millions. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 4, 2019 Category: International Medicine & Public Health Source Type: news
Charcot-Marie-Tooth disease has high cost burden in Germany
(Source: PharmacoEconomics and Outcomes News)
Source: PharmacoEconomics and Outcomes News - March 31, 2019 Category: Drugs & Pharmacology Source Type: news
