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Joshua Burns - One of the best experts on this subject based on the ideXlab platform.
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biomechanical predictors of effective orthotic therapy for painful Pes cavus
Footwear Science, 2013Co-Authors: Bijan Najafi, James S Wrobel, Joshua BurnsAbstract:People who have extremely high-arched feet or Pes cavus often suffer from substantial foot pain (Burns et al. 2005). Custom-made foot orthoses have been shown to be an effective treatment option (H...
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dynamic plantar loading index understanding the benefit of custom foot orthoses for painful Pes cavus
Journal of Biomechanics, 2012Co-Authors: Elizabeth Barnica, Bijan Najafi, James S Wrobel, Joshua BurnsAbstract:The purpose of this study was to evaluate a new method showing how custom foot orthoses (CFO) improve dynamics of plantar loading. The method is based on the probability distribution of peak pressure time series and is quantified using the Regression Factor (RF). RF is a least square regression slope between the experimentally observed plantar pressure magnitude probability distribution and a modeled Gaussian shape. Plantar pressure data from a randomized controlled trial of 154 participants with painful Pes cavus were retrospectively re-analyzed. The participants were randomized to an active treatment group given CFO or a control group given sham orthoses. The location of 2nd Peak pressure as a percentage of stance time (PLoc2) and its magnitude (PM2) was also calculated. In addition, plantar pressure data were collected on 23 healthy volunteers with normal foot alignment and no foot pain. Results demonstrated Pes cavus had a significantly lower RF than healthy participants (0.30 v. 0.51; p 0.5). This study suggests that painful Pes cavus alters the shape of probability distribution of plantar loading during walking and CFO are an effective therapeutic solution that can significantly improve it. Further use of the RF index and 2nd peak pressure location as an outcome measure for treatment of foot and ankle deformities is suggested.
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randomized trial of botulinum toxin to prevent Pes cavus progression in pediatric charcot marie tooth disease type 1a
Muscle & Nerve, 2010Co-Authors: Joshua Burns, Monique M Ryan, Adam Scheinberg, Kristy Rose, Robert A OuvrierAbstract:Pes cavus in Charcot-Marie-Tooth disease type 1A (CMT1A) is thought to be due to muscle imbalance of the lower leg. Botulinum toxin type A (BoNT-A) can modify foot deformity in other conditions of muscle imbalance. We tested the safety and effectiveness of BoNT-A on Pes cavus progression in pediatric CMT1A. A 24-month, randomized, single-blind trial of BoNT-A was undertaken in 10 affected children (20 legs), aged 3-14 years. The treated leg received intramuscular BoNT-A injections at 6-month intervals in the tibialis posterior and peroneus longus. The control leg received no injections. Primary outcome was radiographic alignment at 24 months. Secondary outcomes were foot posture, ankle flexibility, and strength, assessed every 6 months. Radiographically, BoNT-A produced a small non-significant reduction in cavus progression. There was no effect of BoNT-A on secondary outcomes. There were no serious adverse events. At 24 months, the intramuscular BoNT-A injections proved safe and well-tolerated but did not affect the progression of Pes cavus in CMT1A.
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pressure characteristics in painful Pes cavus feet resulting from charcot marie tooth disease
Gait & Posture, 2008Co-Authors: Jack Crosbie, Joshua Burns, Robert A OuvrierAbstract:Charcot-Marie-Tooth (CMT) disease often presents with peripheral muscle imbalance associated with a painful cavus (medial high-arched) foot deformity which becomes increasingly severe and rigid as the disease progresses. The purpose of this study was to investigate the effect of Pes cavus on foot pain and dynamic plantar pressure in CMT, and to explore the relationships between plantar pressure and pain. Sixteen participants diagnosed with CMT and painful Pes cavus were assessed for foot posture, ankle dorsiflexion range of motion, levels of foot pain, functional impairment, health-related quality of life and plantar pressure distribution while walking. Plantar pressure parameters (mean pressure, peak pressure, pressure-time integral) and contact duration were measured using the Novel Pedar in-shoe capacitance transducer system and the foot was divided into rearfoot, midfoot and forefoot regions for analysis. Increasing cavus foot deformity was associated with more widespread foot pain and increased pressure under the forefoot and midfoot regions. In contrast, peak pressure decreased under the rearfoot. Neither relationship was found between foot pain intensity and any of the pressure variables, nor was ankle dorsiflexion range of motion correlated with pain location, intensity or degree of Pes cavus. Although Pes cavus in CMT is associated with substantial pain and dysfunction, there is no clear link between foot pain and plantar pressure. The more severe the degree of Pes cavus, however, the more pressure develops under the lateral margin of the foot; probably as a result of the changed foot-ground contact seen during gait.
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are in shoe pressure characteristics in symptomatic idiopathic Pes cavus related to the location of foot pain
Gait & Posture, 2008Co-Authors: Jack Crosbie, Joshua BurnsAbstract:Abstract People who have extremely high arched feet may be subject to substantial levels of foot pain, despite the lack of obvious pathology. This study sought to investigate the effect of Pes cavus on pain intensity and location and on the magnitude and distribution of foot pressure. Measurements were derived from the more symptomatic foot of 130 participants with painful, idiopathic Pes cavus. Data were collected using Pedar ® in-shoe pressure sensors and averaged over nine randomly selected steps. Participant information, including location and intensity of pain, Foot Posture Index values and anthropometric and "quality of life" variables, were also recorded. Painful idiopathic Pes cavus seems to provoke a more cautious gait pattern than normal, with reduced peak and mean pressure values, particularly in the fore- and rear-foot regions. In particular, participants with pain confined to the rear-foot exhibit an antalgic gait pattern, with lower pressure values and a longer period of foot-ground contact in the heel region than those with pain only in the fore-foot. We determined no clear predictors of pain in terms of foot posture or demographics, although people with high body mass index values are more likely to have pain in several regions. The relationship between the posture of the foot and the presentation of pain remains unclear, however we believe that the presence of heel pain in Pes cavus may be more restricting than fore-foot pain.
Robert A Ouvrier - One of the best experts on this subject based on the ideXlab platform.
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randomized trial of botulinum toxin to prevent Pes cavus progression in pediatric charcot marie tooth disease type 1a
Muscle & Nerve, 2010Co-Authors: Joshua Burns, Monique M Ryan, Adam Scheinberg, Kristy Rose, Robert A OuvrierAbstract:Pes cavus in Charcot-Marie-Tooth disease type 1A (CMT1A) is thought to be due to muscle imbalance of the lower leg. Botulinum toxin type A (BoNT-A) can modify foot deformity in other conditions of muscle imbalance. We tested the safety and effectiveness of BoNT-A on Pes cavus progression in pediatric CMT1A. A 24-month, randomized, single-blind trial of BoNT-A was undertaken in 10 affected children (20 legs), aged 3-14 years. The treated leg received intramuscular BoNT-A injections at 6-month intervals in the tibialis posterior and peroneus longus. The control leg received no injections. Primary outcome was radiographic alignment at 24 months. Secondary outcomes were foot posture, ankle flexibility, and strength, assessed every 6 months. Radiographically, BoNT-A produced a small non-significant reduction in cavus progression. There was no effect of BoNT-A on secondary outcomes. There were no serious adverse events. At 24 months, the intramuscular BoNT-A injections proved safe and well-tolerated but did not affect the progression of Pes cavus in CMT1A.
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pressure characteristics in painful Pes cavus feet resulting from charcot marie tooth disease
Gait & Posture, 2008Co-Authors: Jack Crosbie, Joshua Burns, Robert A OuvrierAbstract:Charcot-Marie-Tooth (CMT) disease often presents with peripheral muscle imbalance associated with a painful cavus (medial high-arched) foot deformity which becomes increasingly severe and rigid as the disease progresses. The purpose of this study was to investigate the effect of Pes cavus on foot pain and dynamic plantar pressure in CMT, and to explore the relationships between plantar pressure and pain. Sixteen participants diagnosed with CMT and painful Pes cavus were assessed for foot posture, ankle dorsiflexion range of motion, levels of foot pain, functional impairment, health-related quality of life and plantar pressure distribution while walking. Plantar pressure parameters (mean pressure, peak pressure, pressure-time integral) and contact duration were measured using the Novel Pedar in-shoe capacitance transducer system and the foot was divided into rearfoot, midfoot and forefoot regions for analysis. Increasing cavus foot deformity was associated with more widespread foot pain and increased pressure under the forefoot and midfoot regions. In contrast, peak pressure decreased under the rearfoot. Neither relationship was found between foot pain intensity and any of the pressure variables, nor was ankle dorsiflexion range of motion correlated with pain location, intensity or degree of Pes cavus. Although Pes cavus in CMT is associated with substantial pain and dysfunction, there is no clear link between foot pain and plantar pressure. The more severe the degree of Pes cavus, however, the more pressure develops under the lateral margin of the foot; probably as a result of the changed foot-ground contact seen during gait.
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interventions for the prevention and treatment of Pes cavus
Cochrane Database of Systematic Reviews, 2007Co-Authors: Joshua Burns, Jack Crosbie, Karl B. Landorf, Monique M Ryan, Robert A OuvrierAbstract:Background People with Pes cavus frequently suffer foot pain, which can lead to significant disability. Despite anecdotal reports, rigorous scientific investigation of this condition and how best to manage it is lacking. Objectives To assess the effects of interventions for the prevention and treatment of Pes cavus. Search methods We searched the Cochrane Neuromuscular Disease Group Specialized Register (17 August 2010), MEDLINE (January 1966 to August 2010), EMBASE (January 1980 to August 2010), CINAHL (January 1982 to August 2010), AMED (January 1985 to August 2010) and reference lists of articles. We contacted experts in the field to identify additional published or unpublished data. Selection criteria We included all randomized and quasi-randomised controlled trials of interventions for the treatment of Pes cavus. We included trials aimed at preventing or correcting the Pes cavus deformity. Data collection and analysis Two authors independently selected papers, assessed trial quality and extracted data. Main results Four trials were included in the review. One new trial of botulinum toxin was identified in the updated search. Only one trial of custom-made foot orthoses fully met the inclusion criteria. Three additional studies (botulinum toxin, footwear and off-the-shelf foot orthoses), all assessing secondary outcomes were included. We could not pool data used in the four studies due to heterogeneity of diagnostic groups and outcome measures. The one trial that fully met the inclusion criteria investigated the treatment of Pes cavus pain in 154 adults over three months. The trial showed a significant reduction in the level of foot pain with custom-made foot orthoses versus sham orthoses (WMD 10.90; 95% CI 3.21 to 18.59). Furthermore, a significant improvement in self-reported foot function and physical functioning was reported with custom-made foot orthoses. There was no difference in reported adverse events following the allocation of custom-made or sham orthoses. Secondary biomechanical outcomes improved with the use of custom-made foot orthoses and footwear (pedobarography), but not with intramuscular injections of botulinum toxin (radiographic) or off-the-shelf foot orthoses (electromyography). Authors' conclusions This updated review shows that custom-made foot orthoses are significantly more beneficial than sham orthoses for treating foot pain associated with Pes cavus in a variety of clinical populations. We also show that some secondary biomechanical outcomes improve with custom-made foot orthoses and footwear, but not with botulinum toxin or off-the-shelf foot orthoses. There is an absence of evidence for any other type of intervention for the treatment or prevention of Pes cavus.
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Pes cavus pathogenesis in charcot marie tooth disease type 1a
Brain, 2006Co-Authors: Joshua Burns, Robert A OuvrierAbstract:Sir, We read with great interest the article by Gallardo et al . (2006) in which the evaluation of leg and foot muscles using manual muscle testing and MRI was conducted in a selection of 11 patients aged 8–61 years with Charcot–Marie–Tooth disease type 1A duplication (CMT-1A). We commend the authors for evaluating the intrinsic foot muscles using MRI as this technique has the potential to contribute greatly to the body of knowledge concerning the pathogenesis of Pes cavus in CMT-1A. Indeed, several authors have hypothesized from studies of manual muscle testing (Sabir and Lyttle, 1983; Mann and Hsu, 1992) and CT (Price et al ., 1993) that weakness of the intrinsic foot muscles may contribute to the development of Pes cavus in CMT-1A. However, the pathogenesis of Pes cavus seen in CMT-1A has also been linked to an imbalance of the long muscles of the leg and foot. The hypothetical model proposed by various authors describes a relationship whereby a weak …
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the effect of Pes cavus on foot pain and plantar pressure
Clinical Biomechanics, 2005Co-Authors: Joshua Burns, Adrienne Hunt, Jack Crosbie, Robert A OuvrierAbstract:Abstract Background. Clinical management of patients with painful Pes cavus is challenging because the mechanism of foot pain is poorly understood. The purpose of this study was to explore the influence of various Pes cavus aetiologies on foot pain and plantar pressure characteristics, and to identify the relationship between foot pain and plantar pressure. Methods. Seventy subjects were recruited for this study. They included 30 subjects with Pes cavus of unknown aetiology (idiopathic), 10 subjects with Pes cavus of neurological aetiology (neurogenic) and 30 subjects with a normal foot type. The presence and location of foot pain was recorded and barefoot plantar pressures were measured using the EMED-SF platform for the whole foot, rearfoot, midfoot and forefoot regions. Findings. Subjects with Pes cavus of either idiopathic or neurogenic aetiology reported a higher proportion of foot pain (60%) compared to subjects with a normal foot type (23%) (P = 0.009). Pressure–time integrals under the whole foot, rearfoot and forefoot regions in Pes cavus, of both idiopathic and neurogenic origin, were higher than in the normal foot type (P Interpretation. Foot pain is a common finding among individuals with Pes cavus. Regardless of aetiology, Pes cavus is characterized by abnormally high pressure–time integrals which are significantly related to foot pain. An understanding of the relationship between Pes cavus pressure patterns and foot pain will improve the clinical management of these patients.
Jack Crosbie - One of the best experts on this subject based on the ideXlab platform.
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pressure characteristics in painful Pes cavus feet resulting from charcot marie tooth disease
Gait & Posture, 2008Co-Authors: Jack Crosbie, Joshua Burns, Robert A OuvrierAbstract:Charcot-Marie-Tooth (CMT) disease often presents with peripheral muscle imbalance associated with a painful cavus (medial high-arched) foot deformity which becomes increasingly severe and rigid as the disease progresses. The purpose of this study was to investigate the effect of Pes cavus on foot pain and dynamic plantar pressure in CMT, and to explore the relationships between plantar pressure and pain. Sixteen participants diagnosed with CMT and painful Pes cavus were assessed for foot posture, ankle dorsiflexion range of motion, levels of foot pain, functional impairment, health-related quality of life and plantar pressure distribution while walking. Plantar pressure parameters (mean pressure, peak pressure, pressure-time integral) and contact duration were measured using the Novel Pedar in-shoe capacitance transducer system and the foot was divided into rearfoot, midfoot and forefoot regions for analysis. Increasing cavus foot deformity was associated with more widespread foot pain and increased pressure under the forefoot and midfoot regions. In contrast, peak pressure decreased under the rearfoot. Neither relationship was found between foot pain intensity and any of the pressure variables, nor was ankle dorsiflexion range of motion correlated with pain location, intensity or degree of Pes cavus. Although Pes cavus in CMT is associated with substantial pain and dysfunction, there is no clear link between foot pain and plantar pressure. The more severe the degree of Pes cavus, however, the more pressure develops under the lateral margin of the foot; probably as a result of the changed foot-ground contact seen during gait.
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are in shoe pressure characteristics in symptomatic idiopathic Pes cavus related to the location of foot pain
Gait & Posture, 2008Co-Authors: Jack Crosbie, Joshua BurnsAbstract:Abstract People who have extremely high arched feet may be subject to substantial levels of foot pain, despite the lack of obvious pathology. This study sought to investigate the effect of Pes cavus on pain intensity and location and on the magnitude and distribution of foot pressure. Measurements were derived from the more symptomatic foot of 130 participants with painful, idiopathic Pes cavus. Data were collected using Pedar ® in-shoe pressure sensors and averaged over nine randomly selected steps. Participant information, including location and intensity of pain, Foot Posture Index values and anthropometric and "quality of life" variables, were also recorded. Painful idiopathic Pes cavus seems to provoke a more cautious gait pattern than normal, with reduced peak and mean pressure values, particularly in the fore- and rear-foot regions. In particular, participants with pain confined to the rear-foot exhibit an antalgic gait pattern, with lower pressure values and a longer period of foot-ground contact in the heel region than those with pain only in the fore-foot. We determined no clear predictors of pain in terms of foot posture or demographics, although people with high body mass index values are more likely to have pain in several regions. The relationship between the posture of the foot and the presentation of pain remains unclear, however we believe that the presence of heel pain in Pes cavus may be more restricting than fore-foot pain.
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interventions for the prevention and treatment of Pes cavus
Cochrane Database of Systematic Reviews, 2007Co-Authors: Joshua Burns, Jack Crosbie, Karl B. Landorf, Monique M Ryan, Robert A OuvrierAbstract:Background People with Pes cavus frequently suffer foot pain, which can lead to significant disability. Despite anecdotal reports, rigorous scientific investigation of this condition and how best to manage it is lacking. Objectives To assess the effects of interventions for the prevention and treatment of Pes cavus. Search methods We searched the Cochrane Neuromuscular Disease Group Specialized Register (17 August 2010), MEDLINE (January 1966 to August 2010), EMBASE (January 1980 to August 2010), CINAHL (January 1982 to August 2010), AMED (January 1985 to August 2010) and reference lists of articles. We contacted experts in the field to identify additional published or unpublished data. Selection criteria We included all randomized and quasi-randomised controlled trials of interventions for the treatment of Pes cavus. We included trials aimed at preventing or correcting the Pes cavus deformity. Data collection and analysis Two authors independently selected papers, assessed trial quality and extracted data. Main results Four trials were included in the review. One new trial of botulinum toxin was identified in the updated search. Only one trial of custom-made foot orthoses fully met the inclusion criteria. Three additional studies (botulinum toxin, footwear and off-the-shelf foot orthoses), all assessing secondary outcomes were included. We could not pool data used in the four studies due to heterogeneity of diagnostic groups and outcome measures. The one trial that fully met the inclusion criteria investigated the treatment of Pes cavus pain in 154 adults over three months. The trial showed a significant reduction in the level of foot pain with custom-made foot orthoses versus sham orthoses (WMD 10.90; 95% CI 3.21 to 18.59). Furthermore, a significant improvement in self-reported foot function and physical functioning was reported with custom-made foot orthoses. There was no difference in reported adverse events following the allocation of custom-made or sham orthoses. Secondary biomechanical outcomes improved with the use of custom-made foot orthoses and footwear (pedobarography), but not with intramuscular injections of botulinum toxin (radiographic) or off-the-shelf foot orthoses (electromyography). Authors' conclusions This updated review shows that custom-made foot orthoses are significantly more beneficial than sham orthoses for treating foot pain associated with Pes cavus in a variety of clinical populations. We also show that some secondary biomechanical outcomes improve with custom-made foot orthoses and footwear, but not with botulinum toxin or off-the-shelf foot orthoses. There is an absence of evidence for any other type of intervention for the treatment or prevention of Pes cavus.
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international paper reliable casting of Pes cavus to minimise errors in custom orthosis fabrication
2006Co-Authors: Joshua Burns, Phillip Hartshorne, Jack CrosbieAbstract:The neutral suspension casting technique is the most commonly used method for obtaining a foot impression. Reliable plaster casting aims to minimise error in orthosis fabrication and improve treatment success. The purpose of our study was t o investigate the reliability of neutral suspension plaster casting in people with a painful Pes cavus foot deformity. Ten participants, mean age 44.1 (SD, 10.1) years, volunteered for the study. Two plaster casts from the left foot of each participant wer e scanned using a 3D non-contact laser to measure six parameters relevant to orthosis fabrication. Reliability of casting wa s excellent for all parameters. Intraclass correlation coefficients were high (ICC 3, 1 = 0.81 to 0.99), measurement error was lo w and there were no significant differences between the two plaster casts of the left foot (P<0.05). The neutral suspension casting technique is a reliable method to obtain an impression of the Pes cavus foot prior to the fabrication of custom foot orthoses.
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the effect of Pes cavus on foot pain and plantar pressure
Clinical Biomechanics, 2005Co-Authors: Joshua Burns, Adrienne Hunt, Jack Crosbie, Robert A OuvrierAbstract:Abstract Background. Clinical management of patients with painful Pes cavus is challenging because the mechanism of foot pain is poorly understood. The purpose of this study was to explore the influence of various Pes cavus aetiologies on foot pain and plantar pressure characteristics, and to identify the relationship between foot pain and plantar pressure. Methods. Seventy subjects were recruited for this study. They included 30 subjects with Pes cavus of unknown aetiology (idiopathic), 10 subjects with Pes cavus of neurological aetiology (neurogenic) and 30 subjects with a normal foot type. The presence and location of foot pain was recorded and barefoot plantar pressures were measured using the EMED-SF platform for the whole foot, rearfoot, midfoot and forefoot regions. Findings. Subjects with Pes cavus of either idiopathic or neurogenic aetiology reported a higher proportion of foot pain (60%) compared to subjects with a normal foot type (23%) (P = 0.009). Pressure–time integrals under the whole foot, rearfoot and forefoot regions in Pes cavus, of both idiopathic and neurogenic origin, were higher than in the normal foot type (P Interpretation. Foot pain is a common finding among individuals with Pes cavus. Regardless of aetiology, Pes cavus is characterized by abnormally high pressure–time integrals which are significantly related to foot pain. An understanding of the relationship between Pes cavus pressure patterns and foot pain will improve the clinical management of these patients.
Alan Fryer - One of the best experts on this subject based on the ideXlab platform.
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a novel recurrent mutation in atp1a3 causes capos syndrome
Orphanet Journal of Rare Diseases, 2014Co-Authors: Michelle Demos, Clara D M Van Karnebeek, Colin Jd Ross, Shelin Adam, Yaoqing Shen, Shing H Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan FryerAbstract:Background We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, Pes cavus, optic atrophy and sensorineural hearing loss) syndrome.
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Cerebellar ataxia, areflexia, Pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
Journal of medical genetics, 1996Co-Authors: P Nicolaides, Richard Appleton, Alan FryerAbstract:There are a large number of well recognised syndromes comprising cerebellar ataxia in association with other neurological features. We report three family members who presented with a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. All three patients have areflexia (in the absence of a peripheral neuropathy), a Pes cavus deformity, and show varying degrees of severity. Extensive neurological investigations have been normal, and the aetiology and pathophysiology of this disorder remain unclear. This may represent a separate syndrome of early onset cerebellar ataxia with associated features ("cerebellar ataxia plus"), which is likely to either have an autosomal dominant or maternal mitochondrial pattern of inheritance. The recognition of this association under the acronym of CAPOS (cerebellar ataxia, areflexia, Pes cavus, optic atrophy, and sensorineural deafness) may help in the delineation of a new syndrome.
Onofre Combarros - One of the best experts on this subject based on the ideXlab platform.
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new insights into the pathophysiology of Pes cavus in charcot marie tooth disease type 1a duplication
Journal of Neurology, 2011Co-Authors: Jose Berciano, Elena Gallardo, Antonio G Garcia, Ana L Pelayonegro, Jon Infante, Onofre CombarrosAbstract:Forefoot Pes cavus is a cardinal sign of Charcot-Marie-Tooth disease (CMT). This review is focused on the pathophysiology of Pes cavus in CMT1A duplication, which is the most common subtype of the disease. Assessment of foot deformities in CMT1A, their prevalence and proposed mechanisms, and recent contributions of magnetic resonance imaging studies of lower-leg and foot musculature are revised. Special attention is given to papers on foot deformities at initial stages of the disease. We conclude that Pes cavus is an early and age-dependent manifestation of CMT1A duplication. Selective denervation of intrinsic foot musculature, particularly of the lumbricals, and not imbalance of lower-leg muscles, seems to be the initial mechanism causing reduced ankle flexibility and forefoot cavus deformity.
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charcot marie tooth disease a review with emphasis on the pathophysiology of Pes cavus
Revista Española de Cirugía Ortopédica y Traumatología (English Edition), 2011Co-Authors: Jose Berciano, Elena Gallardo, Antonio G Garcia, Ana L Pelayonegro, Jon Infante, Onofre CombarrosAbstract:Abstract Charcot-Marie-Tooth disease is the most frequent inherited neuropathy with a prevalence ratio in Spain of 28.2 cases / 100,000 inhabitants. It is a sensory-motor polyneuropathic syndrome, either demyelinating or axonal, which might be transmitted with autosomal dominant, autosomal recessive or X-linked pattern. Despite presenting with a stereotyped semiology, this a genetically complex syndrome comprising 36 localized loci with 30 cloned mutated genes. Here we briefly review the pathogenic mechanisms of these gene mutations. We address the pathophysiology of Pes cavus, which is a cardinal manifestation of the disease. In the early clinical stages, forefoot Pes cavus is most probably due to selective denervation of foot musculature, and particularly of the lumbricals, which causes an imbalance between intrinsic and extrinsic foot muscles leading to toe clawing, retraction of plantar fascia, approximation of the pillars of the longitudinal arch, and shortening of the Achilles tendon. We review the disease diagnosis and treatment.
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Pes cavus pathogenesis in charcot marie tooth disease type 1a
Brain, 2006Co-Authors: Jose Berciano, Elena Gallardo, Antonio G Garcia, Onofre CombarrosAbstract:Sir, We thank Drs Burns and Ouvrier for their interest regarding our article; in their letter, they raise several concerns that we are going to address. But before doing so, we would like to emphasize the rationale of our study (Gallardo et al ., 2006). In previous longitudinal clinico-electrophysiological studies in 12 Charcot–Marie–Tooth disease type 1A duplication (CMT-1A) secondary patients (symptomatic or asymptomatic at-risk relatives affected upon clinico-electrophysiological examination), performed from infancy as the inclusion period (range: 1 month to 5 years; mean: 2 years) to the third decade of life (range: 6–23 years; mean: 13 years), we had found the following outstanding features (Garcia et al ., 1998; Berciano et al ., 2000, 2003): (i) abnormal post-natal nerve conduction maturation in every patient; (ii) all 12 children had normal milestones; (iii) during the inclusion period only two infants (17%) had already developed symptoms, whereas five (42%) were symptomatic at the end; (iv) number of abnormal examinations at the beginning was 6 (50%) and at conclusion was 10 (83%); (v) during the inclusion period, observed signs comprised lower limb areflexia, nerve enlargement, foot semeiology including Pes cavus and shortening of Achilles' tendon, and difficulty in heel walking with no weakness or atrophy of peroneal musculature till the second decade of life; and (vi) progressive atrophy of extensor digitorum brevis (EDB) muscle correlated not with the degree of motor conduction velocity (MCV) slowing of peroneal nerve but with the degree of attenuation of compound muscle action potential (CMAP) of EDB. As Pes cavus and intrinsic foot muscle atrophy may precede the appearance of peroneal muscle atrophy, we hypothesized that initial walking difficulties correlate with abnormal foot architecture owing to selective denervation …