Spinal Deformities in Hereditary Motor and Sensory Neuropathy with Special Emphasis on Dejerine-Sottas Disease: Epidemiology, Pathophysiology, and Management of Scoliosis
This narrative review synthesizes current evidence on the epidemiology, multifactorial pathophysiology, and management challenges of scoliosis in Hereditary Motor and Sensory Neuropathy, with a specific focus on the severe, early-onset Dejerine-Sottas disease, highlighting the need for multidisciplinary care and further research to address existing gaps in genotype-stratified natural history and long-term surgical outcomes.
Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer
Imagine a body's nervous system as a vast network of electrical wires that carry instructions from the brain to the muscles and bring sensory information back. In a condition known as hereditary motor and sensory neuropathy, these wires are damaged from birth, causing muscles to weaken and the sense of touch and position to fade. One of the most severe forms of this condition is called Dejerine-Sottas disease. Children with this illness often show signs of muscle weakness and sensory loss within their first few months of life, long before they learn to walk or sit up on their own. Because the muscles that hold the spine straight are among the first to fail, and because the brain cannot receive clear signals about where the body is in space, the spine begins to twist and curve. This curvature, known as scoliosis, is not just a minor alignment issue; in these children, it can become severe, rigid, and life-altering, often developing while the child is still growing rapidly.
A recent review by independent researcher Alex Hyun June Cho brings together scattered knowledge about how this specific disease affects the spine. The goal was to move beyond general advice for spinal curves and understand the unique, aggressive nature of the problem in Dejerine-Sottas disease. The researcher examined decades of medical literature, looking for patterns in how often the spine curves, why it curves so quickly, and what happens when doctors try to fix it. The review confirms that while spinal curves occur in many types of nerve disorders, they are particularly common and dangerous in Dejerine-Sottas disease, appearing in more than half of all cases and often before a child reaches ten years old. Unlike the more common type of spinal curve found in healthy teenagers, which often stabilizes once growth stops, the curves in this disease are driven by a continuous loss of nerve function. This means the spine can keep twisting and worsening even after the child has finished growing, creating a lifelong challenge for families and doctors.
The paper explains that the curve happens because of a perfect storm of factors. First, the nerves that control the deep muscles along the spine stop working, often on one side more than the other. This creates a constant, uneven pull on the growing bones. Second, the child loses the ability to feel where their body is, so they cannot make the tiny, automatic adjustments needed to stay upright. Third, the genes that cause the nerve damage also seem to affect how connective tissues and bones develop, making the spine more prone to bending. Because the disease starts in infancy, the spine is exposed to these destabilizing forces during the most critical years of growth, leading to a curve that is often long, stiff, and difficult to manage. The review notes that the severity of the curve is closely tied to how early the nerve damage begins; the earlier the symptoms appear, the more aggressive the spinal deformity tends to be.
When it comes to treatment, the review finds that standard approaches used for other types of scoliosis often fall short. Wearing a brace, a common treatment for teenagers with spinal curves, provides very little benefit in these children. The muscles are too weak to respond to the brace, and the sensory loss means the child cannot adjust their posture to make the brace work. Furthermore, a tight brace can sometimes make breathing harder, which is a serious risk for children who already have weak chest muscles. Physical therapy helps maintain strength and comfort but cannot stop the curve from getting worse. The researchers conclude that for children with severe curves that are getting bigger or affecting their ability to sit or breathe, surgery is often the only way to create a stable spine. The most reliable method is a procedure called posterior spinal fusion, where the surgeon straightens the spine and fuses the bones together so they can no longer move or curve further.
The paper also highlights that surgery in these children is more complex and carries higher risks than in healthy patients. Because the nerves are already damaged, monitoring the spinal cord during the operation is difficult, and the children are more prone to infections or breathing problems after the procedure. A newer, less invasive technique called vertebral body tethering, which uses a flexible cord to guide growth, is being tested. However, the review suggests this method is still experimental for this specific disease. The unpredictable nature of the nerve damage means that the cord might fail or the curve might keep worsening despite the surgery. Therefore, the most proven path remains the traditional fusion, performed by specialists who understand both the nerve disorder and the spine.
Perhaps the most important finding of the review is that care for these children cannot end when they stop growing. In typical spinal curves, doctors often stop watching the spine once the child is an adult. But for Dejerine-Sottas disease, the curve can continue to progress into adulthood because the underlying nerve disease never stops. This means that adults who had surgery as children still need regular check-ups to monitor their breathing, their ability to sit, and the stability of their spine. The review emphasizes that managing this condition requires a team approach, bringing together neurologists, surgeons, respiratory doctors, and therapists to work as one unit. Without this coordinated effort, patients risk losing their independence and facing severe complications. The author concludes that while we still do not have a complete map of how every gene affects the spine in this disease, the path forward is clear: early detection, realistic expectations about what treatments can and cannot do, and a lifelong commitment to keeping the spine as functional as possible.
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