From the Research
Charcot-Marie-Tooth (CMT) Therapy Overview
- Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy with no effective drug treatment available yet 1.
- Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment of pain, fatigue, and cramps 1.
Rehabilitation Therapy
- Physiotherapy treatment is a useful tool to manage CMT, improving functionality and daily activities (ADLs) of affected patients 2.
- Strength or endurance trainings are beneficial for patients with CMT, while the role of orthosis is not completely clear and requires further research 2.
Emerging Therapies
- Several approaches are being investigated, including gene silencing, gene therapy, and compounds acting on pathways important for different CMT types 1, 3.
- Modulation of the Neuregulin pathway and intervention on Unfolded Protein Response are promising for both hypo-demyelinating and hypermyelinating neuropathies 1.
- HDAC6 inhibitors have improved axonal transport and ameliorated phenotypes in different CMT models 1.
Clinical Management
- Clinical practice guidelines have been developed for the management of pediatric Charcot-Marie-Tooth disease, including recommendations for muscle weakness, balance and mobility impairment, and sensory symptoms 4.
- Anesthetic management of patients with CMT requires careful planning and selection of anaesthetic drugs to avoid complications 5.