Adrenoleukodystrophy (ALD) is caused by a mutation in the ABCD1 gene, which carries the information necessary for production of the adrenoleukodystrophy protein (ALDP). ALDP is required for the proper transport of molecules called very long-chain fatty acids (VLCFA) to the peroxisomes — compartments in the cells where molecules are broken down. The mutation in the ABCD1 gene causes little or no functional ALDP to be produced. This leads to the accumulation of VLCFA on various tissues, causing damage, especially to the myelin sheath (the protective layer around the nerve fibers in the brain and spinal cord).

The damage to the myelin sheath hinders the proper conduction of electrical impulses required to relay messages from the brain and spinal cord to the rest of the body. This accounts for the mobility symptoms and the resultant pain reported in ALD. Difficulty in walking, leg muscle stiffness, loss of muscle coordination, balance issues, muscle weakness, and spasms are also common symptoms that affect patients’ quality of life.

Physiotherapy serves as a supportive treatment to help ease muscle stiffness, build muscle strength, improve core stability, and relieve pain.

How physiotherapy can help

After evaluation by a professional physiotherapist, an exercise regimen can be tailored to the patient’s needs. In addition to exercise recommendations, the physiotherapist can help relieve pain using other techniques such as massages and assistive devices.

Movement is vital in managing the symptoms of ALD and alleviating pain. But it can be difficult because of muscle stiffness and balance issues. A physiotherapist can assist patients by providing guidance in three main aspects: increasing muscle strength, improving body alignment, and recommending assistive aids.

Physiotherapy for muscle strength and body alignment

Muscle stiffness (especially in the calf) can exert tension to the adjoining muscle fibers, causing pain and problems with walking. It can also lead to deformed joints or complete loss of function. Physiotherapy can help relax the muscle with the help of motion exercises and stretches. The physiotherapist can also provide positioning tips to align the joints and improve functionality.

Good posture is critical to the patient’s ability to maintain balance and alignment while performing exercises. Postural exercises targeting both the upper and lower body muscles can help improve posture and alleviate pain. Upper-body workout can strengthen the trunk muscles, and lower-body exercises can help stretch and relax hip and leg muscles.

Pilates is a form of exercise that uses cables and pulleys to provide controlled movements that improve balance, strengthen core muscles, and generate muscle flexibility.

Yoga, swimming, and cycling can also alleviate symptoms and help improve mobility. But these must only be performed after consultation with a trained specialist and under professional supervision.

Use of assistive devices

Weakness and spasticity in leg muscles can affect mobility and walking pattern. Mobility issues can make it difficult to maintain physical therapy regimens.

Physiotherapists can evaluate the patient’s gait and recommend the use of assistive aids such as canes or rollators to increase mobility and improve the chances of physical activity. They may also suggest positioning aids such as joint braces and splints to assist in joint alignment and reduce muscle stiffness. A knee brace can also be used to keep the knee in place and improve walking ability.

Walking can also be improved by functional electrical stimulation (FES). It has been used by some ALD patients. Several types of FES devices are available. They can be strapped onto the leg and small pulses of electrical charge used to activate the muscles. This stimulation helps lift the foot during walking, thus increasing mobility.

Physical therapy is different for every patient and must only be performed under the guidance of doctors and professional physiotherapists.


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