Neuromuscular Disorders – Comprehensive Treatment
Interdisciplinary diagnosis and treatment of patients with neuromuscular disorders—from assessment of muscle tone, through surgical treatment, to long-term rehabilitation.
What are neuromuscular disorders?
Neuromuscular disorders are conditions characterized by abnormal muscle tone and impaired motor control resulting from damage to or dysfunction of the nervous system, muscles, or neuromuscular junctions. They can be congenital, genetic, or acquired in nature and include, among others, cerebral palsy, spinal muscular atrophy, Rett syndrome, and spina bifida.
Reasons
Damage to the central or peripheral nervous system
Genetic disorders and mutations (e.g., the MECP2 gene mutation in Rett syndrome)
Congenital neural tube defects (spina bifida)
Degeneration of motor neurons in the spinal cord (SMA)
Metabolic Disorders and Muscle Diseases
Perinatal hypoxia, encephalopathies
Symptoms
Abnormal muscle tone—hypotonia or hypertonia
Delay in Psychomotor Development
Difficulty maintaining posture, sitting, and walking
Muscle-Joint Contractures and Limb Deformities
Gait Disorders and Motor Coordination Disorders
Scoliosis and Spinal Deformities
Difficulties with swallowing, speaking, and breathing (depending on the condition)
Diagnostics
neurological examination and assessment of muscle tone,
transfontanellar ultrasound, magnetic resonance imaging (MRI)
EMG (electromyography) test
muscle biopsy
computer-based gait analysis (3D gait analysis)
Genetic counseling for suspected SMA, Rett syndrome, and other genetically determined conditions.
When should you see a specialist?
Early diagnosis and the implementation of appropriate treatment are crucial for a child’s future development.
Please consult our team if you notice any of the following in your child:
muscle weakness or excessive stiffness in the body
delayed motor development (inability to lift the head, inability to sit up, delayed walking)
postural asymmetry or unnatural body positions
difficulties with feeding, sucking, and swallowing
progressive muscle contractures or joint deformities
loss of previously acquired motor skills
suspected scoliosis or hip problems.
How do we treat neuromuscular disorders?
Diagnostics and Planning
Neurological and Orthopedic Evaluation
3D Gait Analysis
Preoperative Risk Assessment (PrePARE)
Personalized Treatment Plan
Conservative Treatment
Neurological Physical Therapy (Vojta, Bobath, NDT, PNF)
Botulinum Toxin (BTX)
Orthotic Devices, Braces, and Orthoses
Pharmacotherapy
Surgical Treatment
Simultaneous Multilevel Surgery (SEMLS)
Bilateral hip joint reconstruction without casts
Minimally invasive muscle lengthening (PERCS/SPML)
Spinal corrections (including SMA and OI)
Rehabilitation and Long-Term Care
Rehabilitation beginning on the first day after surgery
Regular orthopedic and neurological follow-up visits
Collaboration with the family and caregiver education
Coordinated care throughout childhood and adolescence
Cerebral Palsy (CP)
Cerebral palsy is a non-progressive disorder of movement and posture resulting from brain damage that occurs early in a child’s development—during fetal life, at birth, or in the first years of life. Although the brain damage itself does not progress, its effects—abnormal muscle tone, contractures, and limb deformities—may worsen as the child grows if they are not treated early enough.
The most common orthopedic problems in MPD:
hip subluxation or dislocation—one of the most serious complications, leading to pain and limited function,
muscle-tendon contractures (including the hamstrings, iliopsoas muscle, and Achilles tendon),
foot deformities and gait abnormalities,
scoliosis and postural disorders.
Surgical Treatment:
At the Paley European Institute, we were the first center in Poland to introduce simultaneous, bilateral reconstruction of unstable hip joints without the use of casts, with immediate rehabilitation beginning the very next day after surgery. As a result, we have achieved 97% hip stability post-surgery, shortened the hospital stay to 3–4 days (compared to 2–3 weeks with the standard method), and significantly reduced the risk of complications. This procedure, which includes, among other things, triple pelvic osteotomy (tPAO), has been successfully performed on more than 150 patients over the past 8 years.
For children with more complex deformities, we perform single-event multilevel surgery (SEMLS). During a single procedure, bone and soft tissue deformities are corrected simultaneously at various levels of the limb—from the hip, through the knee, to the foot—which helps improve gait patterns, reduce the number of hospitalizations, and shorten the total duration of treatment. SEMLS is primarily considered for children with diplegic or quadriplegic spastic cerebral palsy who walk independently or have the potential to learn to walk, typically between the ages of 6 and 12. Eligibility for the procedure is based on a detailed clinical evaluation and a 3D computerized gait analysis, which allows for the precise identification of which biomechanical elements require correction.
Postoperative rehabilitation includes functional physical therapy focused on teaching proper movement patterns, muscle strength and balance exercises, the selection of appropriate orthoses, and regular orthopedic follow-ups—all carried out in collaboration with the child’s entire family.
Spina Bifida.
Spina bifida is a complex congenital defect of the neural tube that develops early in fetal life. It leads to abnormal closure of the spinal column and spinal cord, which can result in neurological, orthopedic, and urological disorders ranging in severity from mild to very serious.
Treatment at the Paley European Institute is based on four pillars:
Early diagnosis —neurological and imaging evaluation to determine the extent and severity of the defect and any associated complications.
Surgical treatment —neurosurgical and orthopedic procedures to correct deformities of the lower extremities, hip, knee, and foot joints, as well as gait disorders resulting from muscle weakness. Spinal bifida is also one of the indications for simultaneous multilevel surgery (SEMLS) when complex limb deformities are present.
Intensive rehabilitation —tailored to the level and extent of neurological deficits, including gait training, muscle strength training, and orthotic devices.
Regular progress checks —long-term monitoring of the child’s development, as the condition affects the functioning of the musculoskeletal system throughout childhood and adolescence.
Surgical Treatment:
At the Paley European Institute, we were the first center in Poland to introduce simultaneous, bilateral reconstruction of unstable hip joints without the use of casts, with immediate rehabilitation beginning the very next day after surgery. As a result, we have achieved 97% hip stability post-surgery, shortened the hospital stay to 3–4 days (compared to 2–3 weeks with the standard method), and significantly reduced the risk of complications. This procedure, which includes, among other things, triple pelvic osteotomy (tPAO), has been successfully performed on more than 150 patients over the past 8 years.
For children with more complex deformities, we perform single-event multilevel surgery (SEMLS). During a single procedure, bone and soft tissue deformities are corrected simultaneously at various levels of the limb—from the hip, through the knee, to the foot—which helps improve gait patterns, reduce the number of hospitalizations, and shorten the total duration of treatment. SEMLS is primarily considered for children with diplegic or quadriplegic spastic cerebral palsy who walk independently or have the potential to learn to walk, typically between the ages of 6 and 12. Eligibility for the procedure is based on a detailed clinical evaluation and a 3D computerized gait analysis, which allows for the precise identification of which biomechanical elements require correction.
Postoperative rehabilitation includes functional physical therapy focused on teaching proper movement patterns, muscle strength and balance exercises, the selection of appropriate orthoses, and regular orthopedic follow-ups—all carried out in collaboration with the child’s entire family.
Patient care is provided by an interdisciplinary team—neurosurgeons, orthopedic surgeons, neurologists, pediatric urologists, and physical therapists—who work closely together at every stage of treatment.
Spinal Muscular Atrophy (SMA).
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy—particularly of the trunk and limb muscles. There are several types of SMA, ranging from the most severe type 1 (which manifests in infancy) to the milder type 3. Thanks to modern therapies (including gene therapy and disease-modifying drugs), more and more children with SMA are functioning better than they did just a few years ago, although they still often require orthopedic support.
The most common orthopedic problem: scoliosis
Scoliosis affects nearly all patients with SMA types 1 and 2 and about half of those with type 3. Weakened muscles that stabilize the spine are unable to keep it in the correct position, which can cause a characteristic, arched curvature to develop in a child trying to sit independently. Scoliosis in SMA is not just a cosmetic issue—it reduces chest capacity and makes breathing difficult, and it also impairs balance when sitting in a wheelchair.
Conservative treatment:
Braces (e.g., a custom-fitted TLSO brace worn while sitting) can slow the progression of scoliosis, but they are usually unable to completely halt or correct it—their role is to “buy time” until the child is ready for possible surgical treatment. Physical therapy and appropriately selected seating systems (wheelchairs with lateral trunk support) also play an important role, helping to maintain proper body alignment for as long as possible.
Surgical treatment:
When the curvature progresses significantly, correction and stabilization of the spine using instrumentation (rods, screws) extending from the upper spine to the pelvis is considered. In non-ambulatory children, this stabilization extending to the pelvis corrects pelvic tilt and provides a stable foundation for sitting. The decision to perform surgery is made on a case-by-case basis, usually between the ages of 8 and 12, depending on the rate of curvature progression. In very young children, full stabilization of the spine could inhibit chest growth—in such cases, growing rods or VEPTR-type systems are used, which require periodic lengthening as the child grows.
Hips: Some patients with Type 2 SMA (up to 30%) experience hip dislocation. If the child is not walking, the dislocation itself usually does not require treatment, unless it causes pain or contributes to pelvic tilt and worsening scoliosis.
Long-term care includes regular radiological follow-ups of the spine (more frequently if the curvature exceeds 20° and the child is still growing), physical therapy aimed at maintaining range of motion and preventing contractures, as well as close collaboration with a pulmonologist and a neurologist as part of a multidisciplinary care team.
Rett Syndrome (RTT)
Rett syndrome is a genetically determined neurodevelopmental disorder caused by a mutation in the MECP2 gene located on the X chromosome. Due to its pattern of inheritance, the disorder affects almost exclusively girls, with an incidence ranging from 1 in 10,000 to 1 in 23,000 live births. The child develops normally until around 6 to 18 months of age, after which previously acquired skills are lost and further development is stunted.
The course of the disease proceeds in phases:
Phase I (approx. 6–18 months of age) – subtle changes: the child becomes unusually quiet, plays less, makes less eye contact, and the rate of head circumference growth slows.
Phase II (approx. 1–3/4 years of age) – sudden or gradual developmental regression: loss of purposeful hand movements, speech, and gait; characteristic stereotypical hand movements appear (e.g., twisting the hands, hand-washing-like movements), along with respiratory disturbances (hyperventilation, apneas), sleep disturbances, and a decline in social and motor skills.
Phase III (preschool and school age) – a phase of relative stability: communication and interest in interacting with the environment improve, emotional instability decreases, but motor difficulties persist; epilepsy may develop.
Phase IV (from around age 15) – deterioration in mobility and an increased risk of scoliosis; most patients stop walking and adopt unnatural body postures, although cognitive and communication functions generally remain stable or improve slightly.
Other characteristic features of Rett syndrome include ataxia (impaired coordination and balance), muscle wasting in the lower limbs, general emotional flatness, and symptoms resembling childhood autism. Osteoporosis, bruxism, underweight, constipation, apraxia, and cardiac problems may also be present.
Treatment is strictly symptomatic —there is currently no causal treatment available. Our team provides physical therapy, selects orthotic devices to facilitate daily functioning, and, when necessary, refers patients for orthopedic treatment of scoliosis and other musculoskeletal complications. Care also includes speech therapy, nutritional counseling, psychological support, and tailored educational programs—all designed to enable the girls to communicate as effectively as possible and to achieve their full social, emotional, and intellectual potential.
Familial Spastic Paraparesis
Rett syndrome is a genetically determined neurodevelopmental disorder caused by a mutation in the MECP2 gene located on the X chromosome. Due to its pattern of inheritance, the disorder affects almost exclusively girls, with an incidence ranging from 1 in 10,000 to 1 in 23,000 live births. The child develops normally until around 6 to 18 months of age, after which previously acquired skills are lost and further development is stunted.
The course of the disease proceeds in phases:
Phase I (approx. 6–18 months of age) – subtle changes: the child becomes unusually quiet, plays less, makes less eye contact, and the rate of head circumference growth slows.
Phase II (approx. 1–3/4 years of age) – sudden or gradual developmental regression: loss of purposeful hand movements, speech, and gait; characteristic stereotypical hand movements appear (e.g., twisting the hands, hand-washing-like movements), along with respiratory disturbances (hyperventilation, apneas), sleep disturbances, and a decline in social and motor skills.
Phase III (preschool and school age) – a phase of relative stability: communication and interest in interacting with the environment improve, emotional instability decreases, but motor difficulties persist; epilepsy may develop.
Phase IV (from around age 15) – deterioration in mobility and an increased risk of scoliosis; most patients stop walking and adopt unnatural body postures, although cognitive and communication functions generally remain stable or improve slightly.
Other characteristic features of Rett syndrome include ataxia (impaired coordination and balance), muscle wasting in the lower limbs, general emotional flatness, and symptoms resembling childhood autism. Osteoporosis, bruxism, underweight, constipation, apraxia, and cardiac problems may also be present.
Treatment is strictly symptomatic —there is currently no causal treatment available. Our team provides physical therapy, selects orthotic devices to facilitate daily functioning, and, when necessary, refers patients for orthopedic treatment of scoliosis and other musculoskeletal complications. Care also includes speech therapy, nutritional counseling, psychological support, and tailored educational programs—all designed to enable the girls to communicate as effectively as possible and to achieve their full social, emotional, and intellectual potential.
Familial Spastic Paraparesis
Familial spastic paraparesis is a group of rare, genetically determined neurodegenerative disorders characterized by progressive damage to the nerve pathways responsible for controlling movement in the lower limbs. It is characterized by increasing spasticity (increased muscle tone) and weakness in the leg muscles, leading to a gradual deterioration in gait and balance.
A key component of treatment is a multifaceted physical therapy program aimed at maintaining mobility for as long as possible, controlling muscle tone (including through the use of botulinum toxin), providing orthotic devices, and—in select cases—orthopedic treatment of contractures and deformities resulting from long-term spasticity. As with other neuromuscular disorders, patient care requires regular monitoring and collaboration between a neurology and orthopedics team.
Available Articles
https://doi.org/10.1007/978-3-319-69380-4_20
A patient- and family-centered approach
Osseointegration treatment is not just a surgical procedure, but also a process that requires support on many levels—physical, emotional, and social. That is why at the Paley European Institute we use a Family-Centered Care model, in which the patient and their loved ones are an active part of the entire treatment process.
A team of specialists—including surgeons, physical therapists, psychologists, and prosthetists—works together to provide comprehensive care before surgery, during treatment, and throughout rehabilitation. Patients and their families receive clear information about every stage of treatment, which helps them make informed decisions and reduces the stress associated with treatment.
We also place a strong emphasis on psychological support and preparing the patient to live with a prosthesis following osseointegration. This ensures that the adaptation process proceeds safely, allowing the patient to gradually regain independence and confidence in their daily activities.
This approach allows us to take a holistic view of treatment—not just as a surgical procedure, but as a path to improving the quality of life for the patient and their family.
Frequently Asked Questions
Neuromuscular disorders originate in the nervous system or in the muscles themselves—damage to or dysfunction of neurons, muscles, or neuromuscular junctions leads to abnormal muscle tone, weakness, and coordination problems. As a result, secondary orthopedic problems develop—contractures, joint deformities, scoliosis, or hip instability. Therefore, treatment must combine both neurological and orthopedic approaches simultaneously.
Warning signs include: delayed motor development (the child does not lift their head, sit up, or walk at the typical age), excessive floppiness or stiffness of the body, postural asymmetry, difficulty feeding and swallowing, as well as the loss of previously acquired motor skills. If in doubt, it is always a good idea to consult a pediatric neurologist.
Depending on the suspected condition, the following tests may be performed, among others: a neurological examination and assessment of muscle tone, transcranial ultrasound, magnetic resonance imaging (MRI), an EMG, a muscle biopsy, 3D computerized gait analysis, and, in the case of genetic disorders (e.g., SMA, Rett syndrome) – genetic counseling and molecular testing.
SEMLS (Single-Event Multilevel Surgery) is a single-stage, multilevel surgical procedure in which several lower-limb deformities—from the hip through the knee to the foot—are corrected simultaneously during a single operation. It is primarily used in children with cerebral palsy (especially those with diplegia or quadriplegia), but may also be considered for children with spina bifida and other conditions affecting the musculoskeletal system. This approach reduces the number of hospitalizations and anesthetic procedures and shortens the total duration of treatment.
This is a proprietary method used at the Paley European Institute, in which surgery on both hip joints is performed simultaneously, without the use of casts, allowing rehabilitation to begin as early as the day after the procedure. Compared to the standard method, this shortens the hospital stay (3–4 days instead of 2–3 weeks), reduces the risk of complications, and allows for a high level of hip stability after surgery.
No. Treatment always begins with a thorough diagnosis and individualized assessment. In many cases, conservative treatment is sufficient—neurological physical therapy, botulinum toxin, orthotic devices, or medication. Surgical treatment is considered when conservative methods do not result in sufficient improvement or when deformities progress and threaten the child’s function or health.
In conditions such as spinal muscular atrophy, the muscles that stabilize the spine are weakened, making them unable to maintain the spine in the correct position—especially when the child begins to sit up on their own. The curvature tends to progress rapidly and, aside from aesthetic concerns, can restrict chest capacity and make breathing difficult; therefore, it requires regular monitoring and—if necessary—surgical treatment.