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Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment(More)
AIM Motor skill impairment and cognitive dysfunction are commonly reported features of neurofibromatosis type 1 (NF1). We characterized and determined the relationship between motor impairment, gait variables, and cognitive function in children and adolescents with NF1. METHOD Motor function, gait, and neurocognitive abilities were assessed in 46 children(More)
Health-related, quality of life (HRQoL) is an important outcome in clinical trials of patients with Charcot-Marie-Tooth disease (CMT). In a cross-sectional survey of 295 Australian adults with CMT, HRQoL was measured using the Short Form-36 (SF-36) and predictors of reduced HRQoL were identified with a CMT-specific health status questionnaire. People with(More)
BACKGROUND Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited nerve disorder. CMT1A is characterised by peripheral nerve demyelination, weakness, and impaired motor function and is caused by the duplication of PMP22, the gene that encodes peripheral myelin protein 22. High-dose ascorbic acid has been shown to have remyelinating(More)
BACKGROUND Custom foot orthoses are commonly recommended for the treatment of foot pain. OBJECTIVES To evaluate the effectiveness of custom foot orthoses for different types of foot pain. SEARCH STRATEGY We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2007, Issue 2), MEDLINE (from January 1966), EMBASE(More)
Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating neuropathy characterised by progressive length-dependent muscle weakness and atrophy, is thought to affect the foot and leg first followed some time later by hand weakness and dysfunction. We aimed to characterise hand strength, function and disease-related symptoms in children with CMT1A.(More)
Preschool-age children with neuromuscular disorders are often excluded from clinical trials due to the lack of reliable and objective strength measures. We evaluated the reliability of measuring foot and ankle muscle strength in 60 healthy children age 2-4 years. The strength of foot inversion and eversion, ankle plantarflexion, and dorsiflexion was(More)
Although Charcot-Marie-Tooth disease type 1A (CMT1A) initially manifests in the first decade, there are no large studies describing its neurophysiologic features in childhood. We report neurophysiologic findings in 80 children aged 2-16 years with CMT1A who underwent median motor and sensory nerve conduction studies. Neurophysiologic abnormalities were(More)
Charcot-Marie-Tooth disease affects foot and ankle strength from the earliest stages of the disease; however, little is known about factors influencing normal strength development or the pathogenesis of foot weakness and deformity in Charcot-Marie-Tooth disease. The authors investigated factors associated with foot and ankle strength in healthy(More)
UNLABELLED BACKGROUND Intrinsic foot muscle weakness has been implicated in a range of foot deformities and disorders. However, to establish a relationship between intrinsic muscle weakness and foot pathology, an objective measure of intrinsic muscle strength is needed. The aim of this review was to provide an overview of the anatomy and role of(More)