Christine M. Goodbody, MD, MBE, is an attending pediatric surgeon at Children’s Hospital of Philadelphia (CHOP) who specializes in lower extremity neuromuscular conditions. In this Q&A, Dr. Goodbody explains the orthopedic considerations for patients with neuromuscular conditions including applying screening guidelines, knowing when to refer, knowing when surgery is right, and improving outcomes for this patient population.
What red flags should prompt clinicians to consider neuromuscular conditions in children with lower extremity issues?
Clinicians should consider an underlying neuromuscular disorder in children presenting with lower extremity problems when accompanied by developmental delay, regression of motor skills, delayed walking, frequent falls, fatigue or progressive weakness. Additional red flags include asymmetric gait abnormalities, persistent toe walking, crouch or jump gait patterns, unexplained range of motion limitations or deformities, loss of previously acquired function, and a family history of neuromuscular disease. Physical examination findings such as tone abnormalities, diminished or accentuated reflexes, muscle weakness, joint contractures, balance difficulties, or abnormal coordination should raise suspicion and prompt referral for neurologic evaluation.
Is it possible to differentiate toe walking that warrants neuromuscular disorder testing?
While idiopathic toe walking is common in young children and often occurs in the absence of underlying pathology, certain features should prompt evaluation for a neuromuscular disorder. Red flags include persistent or progressive toe walking beyond early childhood, asymmetry, delayed motor milestones, frequent falls, muscle weakness, abnormal muscle tone, contractures, loss of previously acquired skills, or abnormal neurologic examination findings such as altered reflexes or incontinence. A thorough personal and family history and physical examination are essential to distinguish benign idiopathic toe walking from toe walking associated with conditions such as cerebral palsy, muscular dystrophy, peripheral neuropathies, or spinal cord abnormalities.
What role do strength, tone or reflexes play in orthopedic evaluation and decision making for patients with neuromuscular disorders?
In patients with neuromuscular disorders, assessment of strength, tone and reflex-related motor function plays a central role in orthopedic evaluation and decision making. Patterns of weakness influence gait abnormalities, deformity progression, functional limitations, and the ability to maintain surgical correction over time. Abnormal tone, whether spasticity, dystonia, hypotonia, or mixed tone, affects joint alignment and contracture development. High tone may require perioperative management to improve post-intervention pain and reduce the risk of further deformity. Evaluation of strength, selective motor control, and level of function is also critical when determining which interventions are most appropriate (such as when considering fusions versus osteotomies for foot reconstruction, or when determining candidacy for certain surgical tone reduction interventions) while the specific type of tone helps guide tone management strategies in collaboration with the physical medicine and rehabilitation team.
Are there key indicators for deciding when to monitor a patient with a neuromuscular disorder versus when to refer them for orthopedic assessment?
Key indicators for orthopedic referral in patients with neuromuscular disorders include any concern for hip displacement on screening radiographs, spinal curvature identified on physical examination or imaging, foot and limb deformity refractory to bracing, evolving contractures at any joint, and loss or deterioration of function, such as worsening gait or reduced endurance. While increased tone and spasticity can often be managed nonoperatively, the development of a fixed contracture generally warrants orthopedic assessment. Patients without these findings may continue to be monitored, but the emergence of progressive musculoskeletal deformity or functional decline should prompt referral for orthopedic evaluation.
What role do other specialties, such as cardiology, pulmonology, neurology, neurosurgery, and physical and occupational therapy, play in the orthopedic management of neuromuscular disease?
Orthopedic management of neuromuscular disease requires a multidisciplinary team to optimize function, safety, and surgical outcomes. Cardiology and pulmonology are essential for monitoring and managing cardiac and respiratory compromise, which often influence operative risk and long-term mobility. GI and nutrition help optimize patient nutrition pre- and peri-operatively. Neurology guides diagnosis and disease-specific medical management such as seizure control, while neurosurgery may address conditions such as tethered cord, hydrocephalus or high tone through interventions including intrathecal baclofen therapy or selective dorsal rhizotomy. Physical and occupational therapists play a central role in maintaining mobility, range of motion, strength, functional independence and adaptive equipment use, and are critical to the success of our interventions. Physiatrists manage tone differences, bracing needs, and adaptive equipment to optimize patient function, and screen and provide initial management for musculoskeletal impairments.
Can standardized screening approaches improve outcomes for children with orthopedic sequelae of neuromuscular disorders?
Standardized musculoskeletal surveillance programs can improve outcomes for children with neuromuscular disorders by enabling early identification and treatment of progressive orthopedic complications before they become painful, disabling, or require more extensive surgery. Hip surveillance guidelines, particularly for children with cerebral palsy, recommend regular clinical assessment and serial radiographs based on age and functional level to detect hip displacement early and facilitate timely intervention. Similarly, spine surveillance involves routine clinical examination and radiographic monitoring to identify scoliosis progression, allowing optimization of bracing, seating, and surgical planning when needed. Recently, the concept of knee surveillance has emerged, recognizing that progressive knee flexion contractures and crouch gait can significantly impair function and quality of life; systematic monitoring of knee range of motion, gait, and alignment may permit earlier targeted interventions.
Why is hip displacement an issue in the neuromuscular population?
Hip displacement occurs most commonly in non-ambulatory children with neuromuscular disorders and can progress to painful hip dislocation, particularly in those with increased muscle tone. Progressive displacement is associated with reduced quality of life and can significantly impair sitting comfort and hygiene, as well as diapering and other caregiving activities. Early identification and management are important to preserve function and prevent morbidity.
Who is most likely to have hip displacement?
Any child with cerebral palsy (CP) or another neuromuscular disorder with tone abnormalities is at risk for hip displacement; however, the risk is greatest in children who are non-ambulatory. This association is reflected in current hip surveillance guidelines, which recommend more intensive screening for patients with greater functional impairment, as they are more likely to develop progressive hip displacement.
When is surgical intervention indicated for children with hip displacement and what options are available?
Surgical intervention for hip displacement in children is generally considered when there is a migration percentage (i.e., the proportion of the femoral head not covered by the acetabulum) exceeding approximately 30% to 33% with documented progression on serial imaging, although this threshold may be a bit higher for older children where reconstruction will be the intervention of choice. This pattern suggests a high likelihood of further displacement and eventual dislocation. In younger children with less severe displacement, guided growth procedures may be considered to improve hip containment. In older children or those with more advanced displacement, hip reconstruction may be required to restore alignment and stability. For chronic, painful dislocations where reconstruction is not feasible, salvage procedures such as proximal femoral resection may be performed to reduce pain and improve range of motion and care.
What interventions are available for children with neuromuscular disorders who walk inefficiently or have a deteriorating gait pattern?
Initial management for ambulatory children with neuromuscular disorders and a deteriorating gait pattern is typically nonoperative. It includes physical therapy, orthotic bracing, tone management, and rehabilitation medicine support for functional optimization and adaptive equipment. When progression includes fixed contractures, rigid foot deformities, or significant torsional malalignment, surgical intervention may improve the base of support and restore more effective bony lever mechanics for gait.
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Christine M. Goodbody, MD, MBE, is an attending pediatric surgeon at Children’s Hospital of Philadelphia (CHOP) who specializes in lower extremity neuromuscular conditions. In this Q&A, Dr. Goodbody explains the orthopedic considerations for patients with neuromuscular conditions including applying screening guidelines, knowing when to refer, knowing when surgery is right, and improving outcomes for this patient population.
What red flags should prompt clinicians to consider neuromuscular conditions in children with lower extremity issues?
Clinicians should consider an underlying neuromuscular disorder in children presenting with lower extremity problems when accompanied by developmental delay, regression of motor skills, delayed walking, frequent falls, fatigue or progressive weakness. Additional red flags include asymmetric gait abnormalities, persistent toe walking, crouch or jump gait patterns, unexplained range of motion limitations or deformities, loss of previously acquired function, and a family history of neuromuscular disease. Physical examination findings such as tone abnormalities, diminished or accentuated reflexes, muscle weakness, joint contractures, balance difficulties, or abnormal coordination should raise suspicion and prompt referral for neurologic evaluation.
Is it possible to differentiate toe walking that warrants neuromuscular disorder testing?
While idiopathic toe walking is common in young children and often occurs in the absence of underlying pathology, certain features should prompt evaluation for a neuromuscular disorder. Red flags include persistent or progressive toe walking beyond early childhood, asymmetry, delayed motor milestones, frequent falls, muscle weakness, abnormal muscle tone, contractures, loss of previously acquired skills, or abnormal neurologic examination findings such as altered reflexes or incontinence. A thorough personal and family history and physical examination are essential to distinguish benign idiopathic toe walking from toe walking associated with conditions such as cerebral palsy, muscular dystrophy, peripheral neuropathies, or spinal cord abnormalities.
What role do strength, tone or reflexes play in orthopedic evaluation and decision making for patients with neuromuscular disorders?
In patients with neuromuscular disorders, assessment of strength, tone and reflex-related motor function plays a central role in orthopedic evaluation and decision making. Patterns of weakness influence gait abnormalities, deformity progression, functional limitations, and the ability to maintain surgical correction over time. Abnormal tone, whether spasticity, dystonia, hypotonia, or mixed tone, affects joint alignment and contracture development. High tone may require perioperative management to improve post-intervention pain and reduce the risk of further deformity. Evaluation of strength, selective motor control, and level of function is also critical when determining which interventions are most appropriate (such as when considering fusions versus osteotomies for foot reconstruction, or when determining candidacy for certain surgical tone reduction interventions) while the specific type of tone helps guide tone management strategies in collaboration with the physical medicine and rehabilitation team.
Are there key indicators for deciding when to monitor a patient with a neuromuscular disorder versus when to refer them for orthopedic assessment?
Key indicators for orthopedic referral in patients with neuromuscular disorders include any concern for hip displacement on screening radiographs, spinal curvature identified on physical examination or imaging, foot and limb deformity refractory to bracing, evolving contractures at any joint, and loss or deterioration of function, such as worsening gait or reduced endurance. While increased tone and spasticity can often be managed nonoperatively, the development of a fixed contracture generally warrants orthopedic assessment. Patients without these findings may continue to be monitored, but the emergence of progressive musculoskeletal deformity or functional decline should prompt referral for orthopedic evaluation.
What role do other specialties, such as cardiology, pulmonology, neurology, neurosurgery, and physical and occupational therapy, play in the orthopedic management of neuromuscular disease?
Orthopedic management of neuromuscular disease requires a multidisciplinary team to optimize function, safety, and surgical outcomes. Cardiology and pulmonology are essential for monitoring and managing cardiac and respiratory compromise, which often influence operative risk and long-term mobility. GI and nutrition help optimize patient nutrition pre- and peri-operatively. Neurology guides diagnosis and disease-specific medical management such as seizure control, while neurosurgery may address conditions such as tethered cord, hydrocephalus or high tone through interventions including intrathecal baclofen therapy or selective dorsal rhizotomy. Physical and occupational therapists play a central role in maintaining mobility, range of motion, strength, functional independence and adaptive equipment use, and are critical to the success of our interventions. Physiatrists manage tone differences, bracing needs, and adaptive equipment to optimize patient function, and screen and provide initial management for musculoskeletal impairments.
Can standardized screening approaches improve outcomes for children with orthopedic sequelae of neuromuscular disorders?
Standardized musculoskeletal surveillance programs can improve outcomes for children with neuromuscular disorders by enabling early identification and treatment of progressive orthopedic complications before they become painful, disabling, or require more extensive surgery. Hip surveillance guidelines, particularly for children with cerebral palsy, recommend regular clinical assessment and serial radiographs based on age and functional level to detect hip displacement early and facilitate timely intervention. Similarly, spine surveillance involves routine clinical examination and radiographic monitoring to identify scoliosis progression, allowing optimization of bracing, seating, and surgical planning when needed. Recently, the concept of knee surveillance has emerged, recognizing that progressive knee flexion contractures and crouch gait can significantly impair function and quality of life; systematic monitoring of knee range of motion, gait, and alignment may permit earlier targeted interventions.
Why is hip displacement an issue in the neuromuscular population?
Hip displacement occurs most commonly in non-ambulatory children with neuromuscular disorders and can progress to painful hip dislocation, particularly in those with increased muscle tone. Progressive displacement is associated with reduced quality of life and can significantly impair sitting comfort and hygiene, as well as diapering and other caregiving activities. Early identification and management are important to preserve function and prevent morbidity.
Who is most likely to have hip displacement?
Any child with cerebral palsy (CP) or another neuromuscular disorder with tone abnormalities is at risk for hip displacement; however, the risk is greatest in children who are non-ambulatory. This association is reflected in current hip surveillance guidelines, which recommend more intensive screening for patients with greater functional impairment, as they are more likely to develop progressive hip displacement.
When is surgical intervention indicated for children with hip displacement and what options are available?
Surgical intervention for hip displacement in children is generally considered when there is a migration percentage (i.e., the proportion of the femoral head not covered by the acetabulum) exceeding approximately 30% to 33% with documented progression on serial imaging, although this threshold may be a bit higher for older children where reconstruction will be the intervention of choice. This pattern suggests a high likelihood of further displacement and eventual dislocation. In younger children with less severe displacement, guided growth procedures may be considered to improve hip containment. In older children or those with more advanced displacement, hip reconstruction may be required to restore alignment and stability. For chronic, painful dislocations where reconstruction is not feasible, salvage procedures such as proximal femoral resection may be performed to reduce pain and improve range of motion and care.
What interventions are available for children with neuromuscular disorders who walk inefficiently or have a deteriorating gait pattern?
Initial management for ambulatory children with neuromuscular disorders and a deteriorating gait pattern is typically nonoperative. It includes physical therapy, orthotic bracing, tone management, and rehabilitation medicine support for functional optimization and adaptive equipment. When progression includes fixed contractures, rigid foot deformities, or significant torsional malalignment, surgical intervention may improve the base of support and restore more effective bony lever mechanics for gait.
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