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Pediatric Lower Limb Deformities pp 267–296Cite as

Lower Limb Deformity in Neuromuscular Disorders: Pathophysiology, Assessment, Goals, and Principles of Management

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Abstract

Deformities of the lower extremity are common in neuromuscular disorders. The pathophysiology and natural history of these deformities are related to the nature of the underlying neuromuscular disorder. The musculoskeletal manifestations are acquired secondary to the primary problem that might arise from pathology in the brain (e.g., cerebral palsy), the spinal cord (e.g., spina bifida), the peripheral nervous system (e.g., Charcot-Marie-Tooth (CMT) syndrome), or the muscle (e.g., muscular dystrophy). The musculoskeletal deformities that arise from these conditions are a result of various combinations of abnormalities of muscle tone, muscle strength, growth and motor development, motor control, or muscle imbalance, and the impact of these on skeletal growth and remodeling. Although specific deformities might be similar in different neuromuscular conditions, the indications for treatment and the principles of management of these must be considered in the context of the specific disorder, as the impact of specific deformities will vary with the type of disorder (e.g., upper versus lower motor neuron disorders; static versus progressive) as well as the severity of the underlying disorder.

This chapter highlights common neuromuscular conditions that arise from primary pathology in different parts of the neural-muscular axis (brain, spine, peripheral nerve to the muscle). Cerebral palsy, a static encephalopathy (upper motor neuron disorder), is associated with progressive secondary musculoskeletal deformities during growth, and constitutes the leading cause of chronic disability in children. Spina bifida (mixed lower motor neuron and upper motor neuron features) is a congenital deficiency of the neural tube that presents with musculoskeletal deformities both at birth and acquired later during growth. Poliomyelitis is an enteroviral infection affecting the anterior horn cells of the spinal cord and the brain stem motor nuclei. CMT, an inherited peripheral neuropathy, falls under a group of hereditary sensory motor neuropathies (HSMN) and is associated with specific lower extremity deformities of the foot and dysplasia of the hip. The muscular dystrophies, of which Duchenne muscular dystrophy is the most severe and common, is a group of genetic disorders of skeletal muscle associated with progressive weakness.

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  1. Department of Surgery, The Hospital for Sick Children, University of Toronto, 555 University Avenue, S-107, Toronto, ON, Canada, M5G1X8

    Unni G. Narayanan MBBS, MSc, FRCS(C)

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  1. Unni G. Narayanan MBBS, MSc, FRCS(C)
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Correspondence to Unni G. Narayanan MBBS, MSc, FRCS(C) .

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  1. Professor, Department of Orthopedics; Chief, Division of Pediatric Orthopedics, Rutgers-New Jersey Medical School, Newark, New Jersey, USA

    Sanjeev Sabharwal

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Narayanan, U.G. (2016). Lower Limb Deformity in Neuromuscular Disorders: Pathophysiology, Assessment, Goals, and Principles of Management. In: Sabharwal, S. (eds) Pediatric Lower Limb Deformities. Springer, Cham. https://doi.org/10.1007/978-3-319-17097-8_17

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