Idiopathic toe walking and sensory processing dysfunction

<p>Abstract</p> <p>Background</p> <p>It is generally understood that toe walking involves the absence or limitation of heel strike in the contact phase of the gait cycle. Toe walking has been identified as a symptom of disease processes, trauma and/or neurogenic influences. When there is no obvious cause of the gait pattern, a diagnosis of idiopathic toe walking (ITW) is made. Although there has been limited research into the pathophysiology of ITW, there has been an increasing number of contemporary texts and practitioner debates proposing that this gait pattern is linked to a sensory processing dysfunction (SPD). The purpose of this paper is to examine the literature and provide a summary of what is known about the relationship between toe walking and SPD.</p> <p>Method</p> <p>Forty-nine articles were reviewed, predominantly sourced from peer reviewed journals. Five contemporary texts were also reviewed. The literature styles consisted of author opinion pieces, letters to the editor, clinical trials, case studies, classification studies, poster/conference abstracts and narrative literature reviews. Literature was assessed and graded according to level of evidence.</p> <p>Results</p> <p>Only one small prospective, descriptive study without control has been conducted in relation to idiopathic toe walking and sensory processing. A cross-sectional study into the prevalence of idiopathic toe walking proposed sensory processing as being a reason for the difference. A proposed link between ITW and sensory processing was found within four contemporary texts and one conference abstract.</p> <p>Conclusion</p> <p>Based on the limited conclusive evidence available, the relationship between ITW and sensory processing has not been confirmed. Given the limited number and types of studies together with the growing body of anecdotal evidence it is proposed that further investigation of this relationship would be advantageous.</p

Muscle architecture and passive lengthening properties of the gastrocnemius medialis and Achilles tendon in children who idiopathically toe-walk

Children who idiopathically toe-walk (ITW) habitually operate at greater plantarflexion angles and thus, at shorter muscle-tendon unit (MTU) lengths than typically developing (TD) children. Therefore, it is often assumed that habitual use of the gastrocnemius muscle in this way will cause remodelling of the muscle-tendon architecture compared to TD children. However, the gastrocnemius muscle architecture of children who ITW has never been measured. It is essential that we gain a better understanding of these muscle-tendon properties, to ensure that appropriate clinical interventions can be provided for these children. Five children who ITW (age 8 ± 2 years) and 14 TD children (age 10 ± 2 years) participated in this study. Ultrasound was combined with isokinetic dynamometry and surface electromyography, to measure muscle architecture at common positions and passive lengthening properties of the gastrocnemius muscle and tendon across full range of motion. Regardless of which common condition groups were compared under, both the absolute and normalised to MTU muscle belly and fascicle lengths were always longer, and the Achilles tendon length was always shorter in children who ITW than TD children (p 0.05); however, passive joint stiffness was greater in children who ITW at maximum dorsiflexion (p = 0.001) and at a joint moment common to all participants (p = 0.029). Consequently, the findings of this pilot study indicate a remodelling of the relative MTU that does not support the concept that children who ITW commonly experience muscle shortening. Therefore, greater consideration of the muscle and tendon properties are required when prescribing clinical interventions that aim to lengthen the MTU, and treatments may be better targeted at the Achilles tendon in children who ITW

Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases

This article describes two clinical cases of patients with tiptoe walking. As part of the diagnosis, both patients underwent a genetic test for hereditary sensorimotor neuropathy, which revealed in one patient a mutation in the NDRG1 gene with a rare variant c.1022G&gt; A; p.arg341his (minor allele frequency &lt; 0.01%), in the other patient a heterogeneous variant c.1053_1082del and NM_001135242.1 p.thr360_ gly369del was detected. These mutations are associated with Charcot–Marie–Toute disease (type 4D), but none of the patients were clinically diagnosed with this hereditary neuropathy, while the diagnosis of idiopathic toe-walking is also doubtful, since in both cases quite serious treatment was required. Therefore, it is reasonable to assume that both patients walk on tiptoe for a genetic reason

Toe-walking in heterozygous carriers of McArdle disease

McArdle disease (glycogen storage disease type V) is a metabolic myopathy often onset in the first decade of life. The main symptoms of the disease include myalgia and fatigue in the first few minutes of exercise, as well as its intolerance, including contractures, stiffness and / or weakness of the muscles used. These symptoms are usually precipitated by isometric exercise (eg, weight lifting) or long-term vigorous aerobic exercise (eg, stair climbing, jogging), and often improve with rest. The literature describes the clinical heterogeneity of the symptoms of the disease – in addition to a severe, rapidly progressive form, 10% of patients have mild manifestations (for example, fatigue and low endurance, but without the formation of contractures) or a practically asymptomatic course in everyday life. Weakness, which occurs in about 20% of patients, is more likely to involve the proximal muscles and is more common in people over 40 years of age. It is noteworthy that the PYGM gene variants are characterized by phenotypic heterogeneity; two patients may have an identical genetic variant but show symptoms of varying severity. This article describes a clinical case of a 9-year-old patient with the c.1354G&gt;A, Ala452Thr mutation in the PYGM gene. Mutation of this gene is associated with McArdle disease, which has a recessive mode of inheritance. The examined heterozygous carrier of the gene had mild symptoms of the disease, among which the main ones were fatigue and toe walking. Due to the formed deformity of the feet, it was decided that surgery was necessary. The patient underwent percutaneous myofasciotomy. The postoperative period passed without complications. When examined after 6 months, there was no recurrence of walking on toes. Thus, the manifestations of McArdle disease are very diverse, they can manifest, among other things, in the form of gait anomalies and foot deformities, including in carriers of the gene