What Are the Surgical Treatments for SLS Spasticity?

When oral medications and physical therapy are no longer enough to manage severe muscle stiffness (spasticity) in Sjögren-Larsson syndrome (SLS), your medical team may discuss surgical options. Surgery will not cure the underlying condition, but it can be an important tool to improve your child’s comfort, make daily care (like bathing and dressing) easier, and maximize their mobility ^[1].

Because the spasticity in SLS often mirrors the symptoms of cerebral palsy, doctors frequently adapt surgical approaches used in those conditions ^[2]. Broadly, interventions fall into two categories: neurosurgery to calm the overactive nerves, and orthopedic surgery to fix muscles and tendons that have become permanently shortened.

First Steps: Botox and Defining the Stiffness

Before considering major surgery, doctors often use localized, temporary interventions like Botulinum toxin (Botox) injections. Botox can be injected into specific, very tight muscles to temporarily paralyze them, offering relief for a few months ^[3]. This can help doctors see how much of the stiffness is due to active muscle pulling (spasticity) versus fixed structural changes (contractures).

Understanding why the joints are stiff is the most critical step before surgery ^[4]:

• Dynamic Spasticity: The stiffness is caused by overactive nerve signals. The muscle is constantly pulling, but if the nerve signal is temporarily blocked, the joint can still move its full range.
• Fixed Contractures: Over time, constant spasticity causes the muscles and tendons to physically shorten. Even when the patient is completely relaxed or asleep, the joint cannot be fully straightened.

To tell the difference, doctors may examine your child’s muscle tone while they are under general anesthesia ^[4]. Under anesthesia, nerve-driven spasticity disappears. If the joints become flexible, the problem is dynamic spasticity, and nerve-targeting treatments (like an ITB pump) may help. If the joints remain stiff, the child has fixed contractures, which require orthopedic surgery ^[4].

Neurosurgical Options for Spasticity

If the stiffness is primarily driven by nerve signals, neurosurgical procedures aim to calm those signals.

Intrathecal Baclofen (ITB) Pump

For severe, widespread spasticity that does not respond to oral drugs, an Intrathecal Baclofen (ITB) pump is a proven option for patients with SLS ^[5]. A surgeon implants a small pump under the skin of the abdomen, which connects to a tiny catheter (tube) inserted into the spinal fluid. The pump delivers baclofen directly to the spinal cord, allowing for a much lower dose than oral baclofen. This minimizes side effects like sleepiness while providing much stronger relief for tight muscles ^[5][3].

Risks and Maintenance: While effective, an ITB pump requires lifelong commitment. The pump must be refilled regularly by a doctor (typically every few months) ^[6]. Abrupt baclofen withdrawal is a life-threatening medical emergency. If the pump malfunctions, the catheter kinks or moves, or the medication runs dry, it can cause extremely high fevers, severe rebound stiffness, and organ damage ^[7][8]. Surgical risks also include infection at the pump site or spinal fluid leaks ^[7][9].

Selective Dorsal Rhizotomy (SDR)

Selective Dorsal Rhizotomy (SDR) is a major spinal surgery where a neurosurgeon permanently cuts specific sensory nerve fibers to reduce stiffness. While SDR is widely used in children with cerebral palsy ^[10], there are no published reports of successful SDR for Sjögren-Larsson syndrome, and it is generally considered highly experimental or not recommended for this condition ^[4].

In one published case of a child with SLS being considered for SDR, doctors found that the child’s stiffness did not improve under anesthesia, meaning the stiffness was caused by fixed contractures, which SDR cannot fix ^[4]. Additionally, if a child has dystonia (involuntary muscle twisting), SDR can sometimes make those symptoms worse ^[11][12]. Because SDR is permanent, carries risks of spinal fluid leaks and permanent weakness, and lacks evidence for SLS, ITB pumps are typically preferred.

Orthopedic Surgeries for Contractures

If your child has developed fixed contractures, orthopedic surgery is required to physically lengthen the shortened tissues and restore joint movement ^[4]. Surgeries are usually based on the child’s symptoms and development of contractures, rather than a specific age ^[3]. Because SLS commonly affects the legs ^[13], surgeries often focus on the lower body:

• Tendon Lengthening: Surgeons lengthen specific tendons (like the Achilles) to help a child who walks on their toes put their feet flat ^[2][14].
• Muscle Releases (Tenotomies): For children whose legs cross like scissors, releasing the tight muscles on the inner thighs (adductors) can improve leg positioning ^[2][14].
• Hip Surgery: Severe spasticity can pull the hip joints out of their sockets over time. Doctors regularly monitor the hips with X-rays. If the hip is unstable, bone surgeries (osteotomies) may be needed to reposition the joint ^[2][14].

Recovery and Risks: Orthopedic surgeries require anesthesia and involve recovery times ranging from a few weeks to several months, depending on the extent of the surgery. Risks include infection, bleeding, and the possibility that contractures may return over time if physical therapy is not strictly followed.

The Importance of Rehabilitation

Surgery is only part of the solution. Whether your child receives an ITB pump or undergoes orthopedic releases, intensive post-operative physical therapy is absolutely vital ^[1]. Following orthopedic surgery, children often need to wear casts or supportive braces, like ankle-foot orthoses (AFOs), to maintain their new flexibility and prevent muscles from tightening up again ^[1][3]. Parents should prepare for a demanding rehabilitation schedule in the months following any surgical intervention.