Charcot-Marie-Tooth Disease Treatment & Symptoms

Expert Charcot-Marie Tooth Disease Treatment in Delhi

What is Charcot-Marie Tooth Disease?

Charcot-Marie-Tooth (CMT) disease is a group of inherited neurological disorders that affect the peripheral nerves. These nerves connect the brain and spinal cord to the rest of the body, including muscles and sensory organs. CMT is characterized by progressive muscle weakness and atrophy, as well as sensory loss, primarily in the feet, lower legs, hands, and forearms.

Causes of Charcot-Marie-Tooth Disease

CMT is an inherited genetic condition. It is caused by mutations in various genes that are responsible for the development and function of peripheral nerves. These mutations can affect:-

Myelin Sheath: The protective coating around nerve fibers (axons) that helps transmit nerve signals efficiently. Mutations affecting myelin can lead to its degradation or insufficient production, slowing down nerve impulses.
Axon: The core part of the nerve cell that transmits signals. Mutations affecting the axon can lead to direct damage and impaired signal transmission.

There are numerous types of CMT, each linked to different genetic mutations and patterns of inheritance (autosomal dominant, autosomal recessive, or X-linked). The most common type, CMT1A, is often caused by a duplication of the PMP22 gene, which leads to problems with the myelin sheath.

Symptoms of Charcot-Marie Tooth Disease

Symptoms of CMT usually begin in the feet and legs and often appear in childhood or adolescence, though they can develop later in life. The severity and progression of symptoms vary widely among individuals, even within the same family. Common symptoms include:

Muscle Weakness and Atrophy

Foot drop: Difficulty lifting the front part of the foot, leading to a high-stepping gait (steppage gait) to avoid dragging the toes. This increases the risk of tripping and falling.
Weakness in the ankles and lower legs: Leading to instability and frequent ankle sprains.
“Stork legs” or “inverted champagne bottle” appearance: Due to muscle wasting in the lower legs while thigh muscles remain relatively normal.
Weakness in hands and forearms: Affecting fine motor skills, grip strength, and dexterity (e.g., difficulty with buttoning shirts, writing, or opening jars).

Foot Deformities

Pes cavus (high arches): Very common.
Hammer toes: Toes that are bent abnormally at the middle joint.
Less commonly, flat feet (pes planus) can occur.
These deformities can lead to painful calluses and blisters due to abnormal pressure distribution.

Sensory Loss

Numbness, tingling, or burning sensations (paresthesia) in the feet and hands.
Reduced sensation to touch, pain, and temperature, especially in the extremities. This can make individuals unaware of injuries.
Balance Problems: Due to muscle weakness and sensory loss, leading to increased risk of falls.
Fatigue: Resulting from the increased effort required for movement.
Pain: Can be neuropathic (nerve-related) or musculoskeletal (due to joint strain, deformities, and altered gait).
Reduced or Absent Deep Tendon Reflexes: Especially in the ankles.
Scoliosis: Curvature of the spine can occur in some cases.
Tremor: Uncontrollable shaking, often in the hands.

CMT is a progressive condition, meaning symptoms generally worsen over time. However, it is rare for individuals to completely lose the ability to walk, though many may eventually require walking aids.

Physiotherapy for Charcot-Marie Tooth Disease

Physiotherapy plays a crucial role in managing CMT, aiming to optimize function, prevent deformities, reduce pain, and improve quality of life. The focus is on symptomatic management and maintaining mobility, as there is no cure for CMT.

Strengthening Exercises

Targeting muscles that are still functional to maximize their strength and compensate for weaker muscles.
Emphasis on ankle dorsiflexors to combat foot drop, and hip and core muscles for overall stability.
Low-impact exercises are preferred to avoid overexertion and muscle damage.

Stretching and Range of Motion (ROM) Exercises:

To prevent and manage muscle contractures and joint deformities (e.g., foot and ankle stretches, stretches for tight hamstrings and hip flexors).
Maintaining joint flexibility is crucial to optimize function and prevent secondary complications.

Balance and Proprioception Training

Exercises to improve balance and body awareness, reducing the risk of falls. This can include standing on unstable surfaces, single-leg stance, and dynamic balance activities.

Gait Training

Analyzing and correcting abnormal gait patterns to improve efficiency and safety.
Using visual cues, verbal feedback, and various walking exercises.

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