Posts by: Jose Marques Lopes, PhD

News

People with Charcot-Marie-Tooth disease (CMT) type 4B1 have earlier onset and faster progression of disease — as well as more common respiratory complications and greater delay in achieving motor ... Read more

May 14, 2019May 14, 2019

#AANAM — Combined Gene Therapy/RNA Strategy May Correct Cellular Changes in CMT2A, Study Suggests

News

A combination of gene therapy and a strategy called RNA interference (RNAi) successfully repaired disease-related alterations in nerve cells derived from patients with Charcot-Marie-Tooth disease type 2A (CMT2A), according ... Read more

May 9, 2019May 9, 2019

#AANAM – Follow-up Study of DI-CMTC Patients Shows Progressive Nerve Damage, Gait Deterioration

News

Patients with dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC) experience progressive nerve damage, disability, and gait and quality of life deterioration, according to a follow-up study over 16 years. ... Read more

April 11, 2019April 11, 2019

Economic Burden of CMT Treatment Increases with Disease Severity, Age, German Study Reports

News

Treatment of Charcot-Marie-Tooth (CMT) disease represents a substantial economic burden, which increases with age, disease severity, comorbidities, obesity and perceived impairments, according to a German study. The study, “Cost ... Read more

April 9, 2019April 9, 2019

High Incidence of Facial Spasms, Nerve Pain Found in Related CMT1B Patients

News

A large kindred (group of related people) of Charcot Marie Tooth disease type 1B (CMT1B) patients revealed an increasing incidence of facial spasms and intense nerve pain with age, ... Read more

February 14, 2019February 14, 2019

Study of Altered Mitochondrial Connections Could Offer Insight About CMT2A Severity

News

Mutations in the MFN2 gene are associated with altered connections between mitochondria and another cellular structure called endoplasmic reticulum (ER). These correlate with Charcot–Marie–Tooth disease type 2A (CMT2A) severity, ... Read more

January 17, 2019January 17, 2019

MRI-based Technique Enables Early Diagnosis of Sciatic Nerve Damage in CMT1 Patients, Study Reports

News

A technique called diffusion tensor imaging (DTI) enables diagnosis of sciatic nerve damage in patients with Charcot-Marie-Tooth disease type 1 (CMT1). The study, “Diffusion tensor imaging of the sciatic ... Read more

October 17, 2018October 17, 2018

PXT3003 Eases Disability, Found Safe in CMT1A Patients, Phase 3 Trial Shows

News

Investigational compound PXT3003 consistently eased disability in patients with mild to moderate Charcot-Marie-Tooth disease type 1A (CMT1A), according to top-line Phase 3 results from Pharnext, which also found that the ... Read more

September 7, 2018September 7, 2018

Nerve Ultrasound Differentiates CMT1A From Other Subtypes, Study Suggests

News

Differences in high-resolution nerve ultrasound (HRUS) results could help distinguish patients with Charcot-Marie-Tooth disease type 1A (CMT1A) from those with other disease types characterized by the loss of myelin, ... Read more

August 1, 2018August 1, 2018

Specific Rehab Protocol Improves Hand Function in CMT Patients, Study Reports

News

A specific rehabilitation protocol improves hand function and is well-tolerated by patients with Charcot-Marie-Tooth disease, according to researchers. The study, “Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label ... Read more

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