Physiotherapy Treatment Strategies in Axonal Type of Charcot Marie Tooth Disease: A Case Report

Charcot-Marie-Tooth disease (CMT) includes a wide spectrum of primary inherited sensory-motor neuropathies. Diseases in this range are characterised by the degeneration of the axonal or myelin structures of the peripheral nerves, with pathological and molecular abnormalities affecting the motor and sensory neurons. Most people with CMT experience symptoms in their first or second decades of life, starting with a subtle onset of weakness in their lower extremities and eventually moving up to their upper extremities. CMT is a progressive, lifelong disease for which physiotherapy management is found to be vital for improvement in symptoms, but is underdeveloped in terms of a gold standard protocol for treatment. This study presents a 37-year-old female with a history of upper and lower limb weakness, muscle atrophy, and occasional muscle cramping, which increased with physical activity. Initially, she was misdiagnosed for around 20 years, post which she was diagnosed with CMT Type 2A2B. Post diagnosis, she began a physiotherapy regimen consisting of core muscle strengthening, upper and lower extremity strengthening, balance and gait training with B-TRACK protocol, as well as aerobic exercises. Following a 3-month treatment protocol, the subject's assessments showed a marked improvement in strength, balance, and functional mobility. This case study highlights the importance of physiotherapy exercises in enhancing strength, balance, and functional mobility for individuals with CMT. As CMT is a progressive and lifelong disease, it also highlights the requirement for a long-term management plan for physiotherapy treatment. Furthermore, the case report also highlights the benefits that exercise can bring to the patient's quality of life and underscores the need for developing a gold standard, evidence-based treatment plan for managing CMT.