CMTA Strategy To Accelerate Research (CMTA-STAR) Advisory Board member and clinic director of the CMTA Center of Excellence at the C. Besta Neurological Institute in Milan, Italy, Davide Pareyson, MD, and colleagues review the latest advancements in Charcot-Marie-Tooth disease (CMT). Their article, Charcot-Marie-Tooth Disease: A Review of Clinical Developments and Its Management – What’s New in 2025?, explores diagnostic challenges and evolving approaches to patient care.
Refining the Diagnostic Approach to CMT
An accurate CMT diagnosis guides treatment decisions and ensures proper management. Diagnosis follows a structured process:
- Clinical evaluation to assess symptoms, severity, and distinguishing characteristics such as vocal cord involvement, optic atrophy, or sensory abnormalities.
- Electrophysiological testing, including nerve conduction studies.
- Genetic testing to confirm the specific CMT subtype.
- Nerve biopsy is rarely used today but may still be considered in specific cases.
Because CMT symptoms can overlap with other diseases, an accurate diagnosis is critical for ensuring proper care and treatment planning. Visit CMTA’s Diagnosing CMT page to learn more.
Comprehensive Care: Managing CMT Today
While there are no FDA-approved treatments for CMT, CMT specialists continue refining multidisciplinary care strategies that help maintain mobility, function, and quality of life.
Rehabilitation and Supportive Care
- Exercise & Physical Therapy: Exercise and daily physical activity improve overall CMT condition and overall health.
- Bracing & Orthotic Support: Ankle-foot orthoses (AFOs) can provide stability, improve gait mechanics, and help reduce fall risk.
- Breathing & CMT: CMT can include breathing muscle and/or vocal cord weakness for some, leading to shortness of breath, sleep disturbances, or fatigue. Anyone experiencing these symptoms should speak with a qualified healthcare provider about available treatment options. Visit CMTA’s CMT and Breathing page to learn more.
Surgical Considerations
- Foot & Ankle Surgery: Reconstructive foot surgery can correct foot deformities caused by CMT and improve ankle stability. Visit CMTA’s foot and ankle surgery page to learn more.
- Scoliosis Surgery: An abnormal spine curvature called scoliosis occurs in 15–25% of individuals with CMT but typically remains mild. For some, scoliosis can become severe and may require surgical intervention.
- Hand Surgery: When thumb or wrist weakness affects function, tendon transfers can help restore mobility.
Managing Pain and Fatigue
- Pain in CMT often results from skeletal misalignment, postural abnormalities, and muscle fatigue. Treatment options include physical therapy, bracing, and medication when a qualified healthcare provider determines it appropriate.
- Fatigue is common and may be linked to muscle weakness, sleep disturbances, or other CMT symptoms. Regular physical activity, including routine exercise, has been shown to improve endurance and reduce fatigue in individuals with CMT.
Looking Ahead: The Future of CMT Treatment
As researchers continue working toward targeted treatments for CMT, accurate diagnosis, proactive care, and research-driven advancements remain essential in improving quality of life. Progress in genetic therapies, clinical trial readiness, and preclinical development is laying the foundation for future breakthroughs.
CMTA is driving research forward through three key investment areas:
- Genetic Therapies: Advancing CRISPR, AAV-mediated gene therapy, and antisense oligonucleotide (ASO) approaches to address CMT at the genetic level.
- Natural History & Clinical Trial Readiness: Developing biomarkers, outcome measures, and long-term natural history studies to prepare for future clinical trials.
- Preclinical Toolboxes & Ecosystem: Building the models, assays, and research infrastructure necessary to support therapy development and ensure a smooth transition from preclinical research to human trials.
CMTA remains committed to supporting every step of this journey—connecting patients with expert care, funding critical research, and accelerating progress toward effective treatments. While no FDA-approved treatments exist, advancements in genetic testing, rehabilitation strategies, surgical approaches, and CMTA-STAR-driven treatment research continue to move the field forward. The findings highlighted in Dr. Pareyson’s review reinforce the importance of multidisciplinary management and ongoing research in shaping the future of CMT care.
Read Dr. Pareyson’s full review in Expert Review of Neurotherapeutics.
Published on:March 24, 2025