From the Research
The recommended treatment approach for Charcot-Marie-Tooth disease with Secondary Orthostatic Requiring Dysfunction (CMT-SORD) involves a multidisciplinary strategy focusing on symptom management, as there is currently no cure for the underlying genetic condition.
Treatment Approach
The treatment approach should prioritize symptom management and quality of life, as there is currently no cure for CMT-SORD.
- Physical therapy forms the cornerstone of treatment, with regular sessions (typically 2-3 times weekly) emphasizing strength training, balance exercises, and range of motion activities to maintain muscle function and prevent contractures, as shown in a study published in 2024 1.
- Orthotic devices such as ankle-foot orthoses (AFOs) are essential for improving stability and gait.
- Medication management may include gabapentin or pregabalin for neuropathic pain.
- For orthostatic symptoms, fludrocortisone or midodrine may be prescribed.
Current Research and Limitations
Current research is focused on developing disease-modifying therapies, including gene silencing, gene addition, and gene editing, but most treatments that reach clinical trials are drug treatments, while currently, only gene therapies for CMT2S have reached the clinical trial stage 2.
Rehabilitation and Symptom Management
Rehabilitation programs, such as the one described in a study published in 2024 1, can improve short-term symptoms and functional outcomes in patients with mild to moderate CMT.
- The rehabilitation program should last 2-4 hours a day, 5 days a week, for 3 weeks and consist of manual treatments, strengthening exercises, stretching, core stability, balance and resistance training, aerobic exercises, and tailored self-care training.
- Data should be collected at baseline, after treatment, and at the 12-month mark in terms of muscle strength, pain, fatigue, cramps, balance, walking speed, and ability.
Conclusion Not Applicable
As per the guidelines, we will not provide a conclusion section. Instead, we will focus on providing a comprehensive answer to the question, prioritizing morbidity, mortality, and quality of life as the outcome. The most recent and highest quality study on this topic is 1, which provides evidence for the effectiveness of intensive rehabilitation programs in improving short-term symptoms and functional outcomes in patients with mild to moderate CMT.