How Charcot Marie Tooth Disease Affects Balance & How TIN’s Physical Therapy Videos Can Help!

When you live with an inherited neuropathy like Charcot-Marie-Tooth Disease (CMT) every day, you soon understand the effect this neuromuscular condition has on the ability of the peripheral nerves to transmit signals between your brain and the rest of your body. Progressing muscle weakness, sensory loss, and a variety of other symptoms that significantly impact your daily life make it evident that neural pathways that once existed no longer do. One of the most noticeable and frustrating effects of CMT is its impact on balance.

Symptoms typically begin in the feet and lower legs, with some of the earliest signs being difficulty with walking, foot drop, and distal muscle atrophy (toes, feet, ankles and calves).
-Foot drop makes it difficult to lift your foot which often causes tripping.
-Muscle atrophy in the toes has a big impact on one’s ability to balance, as does the lack of key muscles in the lower leg and foot that help stabilize the lower body.
-Proprioception is the sense of recognizing the position of the body in space. Damage to the sensory nerves in CMT patients impairs this ability, making it harder for individuals to sense the position of their feet and legs, which is crucial for maintaining balance.
-The loss of sensation in the feet makes it difficult to feel changes in the ground, further compounding balance difficulties.
These issues can significantly impact the overall quality of one’s life and create a serious need for interventions to help mitigate these effects and enable CMT patients to remain independent.

Over the years, multiple studies have suggested the use of ankle-foot orthotics (AFO’s) for managing balance problems. Ankle-foot orthoses can help stabilize the feet, assist with foot drop, and improve walking ability. A more recent study entitled; The effect of ankle‐foot orthoses on gait characteristics in people with Charcot‐Marie‐Tooth disease: A systematic review and meta‐analysis (Kim et al., 2024), showed that AFO’s positively affect gait (walking velocity, stride length, step length), balance, and promoted more normal movement of ankle, knee and hip joints.

Interestingly, several articles in the last 5 years have emphasized the value of gait training and the use of balance-specific physical therapy exercises to help improve functionality. Gait analysis in Charcot-Marie-Tooth (CMT) disease focuses on understanding how the progressive neurological disorder impacts walking patterns, posture, and muscle function. Muscle weakness, sensory loss, and abnormal foot mechanics all influence gait. Recent studies have advanced our understanding of these gait-specific abnormalities and provide better diagnostic methods (use of gait and balance sensors), treatment options and therapeutic interventions (Park et al., 2023)

Key gait characteristics studied in CMT patients include; (a) foot drop and associated high stepping gait to compensate for the inability to flex the foot, and (b) Kinematics (the motion of the body) and Kinetics—the forces and their effects on the motion (Park et al., 2023). For example, as any CMT sufferer knows, for our foot to clear the walking surface without stumbling we must do an over-exaggerated lifting of the hip and knee (altered knee and hip kinematics). This results in altered joint angles and muscle timing (altered forces) which disrupt normal movement patterns (the effects on the motion-kinetics), and make patients more prone to falls. Likewise, foot deformities (high arches and hammertoes), common in CMT patients, have been found to lead to abnormal foot mechanics such as reduced push-off phase during walking, altering gait dynamics and reducing overall walking efficiency—again examples of Kinematic and Kinetic alterations (Klewer et al., 2019; Klemm et al., 2020). As many of us also know, these long-term altered movement patterns also put undo strain on the back.

Many articles addressing balance and gait impairments discuss using balance-specific physical therapy (PT) and rehabilitative exercise interventions and techniques (De Luca & Messina, 2020). Those of us who have used TIN’S balance-tailored PT Videos know that this type PT work strengthens the muscles, improves coordination, and provides techniques to compensate for balance difficulties.

Another recent and interesting study explored using a multi-sensory balance training approach coupled with a proximal muscle strengthening exercise program to improve balance in CMT patients (Dudziec et al., 2024). From a motor and sensory perspective, CMT causes disease-related distal muscle weakness and sensory impairment in muscles furthest from the trunk (toes, feet, ankles, calves), and because of that our proximal muscle groups (hip, thigh, gluteal) muscles become weak from disuse. The study looked into specific exercises to strengthen the proximal muscles of CMT patients to assist more with balance than would normally be their role. Additionally, they trained CMT patients to be receptive to alternative sensory signals of vestibular input (related to inner ear) and proprioceptive cues (the sense of body position and movement) from their proximal muscles (rather than from disease-affected distal muscles) to help maintain balance.

If you are interested in learning more, visit with a physical therapist in your area. Additionally, check out TIN’s Physical Therapy Videos and Video Snacks for specific strength and balance exercises to help you manage these CMT related challenges. REMEMBER “Just Keep Moving”!

Author: Teresa M. Carroll PhD (Patient Advocacy Advisor-Therapies for Inherited Neuropathies; TIN)