Tiptoe Walking Research Articles

Children presenting with toe walking: when should concern arise?

Purpose: This study aimed to evaluate children who present with tiptoe walking (TW) and to identify potential indicators of underlying medical conditions. Materials and Methods: Out of the 248 patients who visited the Pediatric Neurology Outpatient Clinic for gait disturbances, 90 individuals aged 1-17 years were identified as exhibiting TW. After excluding those with systemic neurological diseases and pervasive developmental disorders (PDD), the study ultimately included 47 patients. Results: Among the participants, 19 were female (40.5%) and 28 were male (59.5%). The mean age of the patients was 4.9 years (SD ± 3.53). When evaluating the etiology of TW, 30 patients (63.8%) were found to have idiopathic tiptoe walking (ITW), 8 (17%) had cerebral palsy (CP), 6 (12.7%) had Achilles tendon shortness (ATS), 2 (4.2%) had hereditary spastic paraplegia (HSP), and 1 (2.1%) had syringomyelia. Imaging was not performed for 17 patients (36.1%), while cranial magnetic resonance imaging (MRI) was conducted for 13 (27.6%), spinal MRI for 2 (4.2%), and both cranial and spinal MRI for 15 (31.9%). Pathology was detected in 5 of the patients who underwent imaging (10.6%): 4 (8.5%) showed hypoxic-ischemic processes, and 1 (2.1%) showed syringomyelia. Conclusion: In cases where patients exhibit normal neurological examinations and neuromotor development, TW is often identified as idiopathic. However, for patients presenting with risk factors in their personal or family history, delays in neuromotor milestones, or abnormal neurological findings, a diagnosis should be pursued at an earlier stage.

Outcome of a Simple Novel Technique to Reduce Soft Tissue Complications in Open Tendoachilles Injury: A Series of 20 Patients.

Open tendoachilles injuries are rare and associated with significant soft tissues complications. The objective of the present study was to assess the clinical outcome and safety of a simple and minimally invasive technique, with a goal to assess if it may help minimise flap and wound related complications in open tendoachilles injuries. This prospective study of four years duration included 20 patients with open tendoachilles injuries managed with a simple minimally invasive tunnel technique. The primary outcome variable was occurrence of a major soft tissue complication. The secondary outcome variables included functional outcome measured using AOFAS Ankle hind foot score, re-rupture of tendoachilles and need for revision surgery. None of the patients in the present series developed a serious soft tissue complication. Based upon the AOFAS hind foot scoring system, good to excellent outcome was achieved in 19 (95%) patients. All the patients were able to perform tip toe walking at six months post-surgery. None of the patients had a re-rupture of the tendoachilles and no patient needed a revision surgery. The complications encountered include thickening of the tendon at the repair site (15%), superficial wound infection (5%), stitch granuloma (5%) and hypertrophic scar (5%). This technique seems to be promising in reducing the soft tissue complications associated with the surgical management of open tendoachilles injuries. Most patients had a good final clinical outcome. The technique is safe, simple and reproducible. However, further randomised control studies with a larger sample size assessing the technique are recommended.

The effect of a 6-month physical literacy intervention on preschool children's gross and fine motor skill: The Active Early Learning randomised controlled trial

ObjectivesThe Active Early Learning intervention was designed to support childcare educators to imbed physical literacy promoting activities into the daily childcare curriculum. The objective of this study was to determine whether this physical literacy intervention had any influence on motor skill development. Design22-week stratified cluster randomised controlled trial. MethodsFifteen childcare centres (8 intervention, 7 control centres; 314 children, 180 boys, 4.3y ± 0.4) participated in the study. Six motor skills were assessed: object control (ball drop/catch and bean bag throw accuracy), locomotor control (10 m shuttle run), stability (one-leg balance and tiptoe walking on a line), and fine motor control (coin manipulation). Intervention effects were evaluated using linear mixed models adjusted for age, sex, socio-economic status, and centre clustering. ResultsThere was evidence for an intervention effect on fine motor control (−0.47 s, CI [−0.93 to −0.02], p = .041) and the ball drop/catch task (0.68, CI [0.01–1.35], p = .046), but not for locomotor control, stability, or throw accuracy. ConclusionsImprovements in children's gross and fine motor skills can be achieved with a physical literacy intervention delivered by childcare educators. However, broad enhancement of motor skills cannot be assumed by simply introducing more physical literacy promoting activities into the daily routine, and specific motor skill instruction seems warranted in childcare settings.

Natural and experimental salinomycin poisoning associated with the use of florfenicol in pigs

ABSTRACT: This study describes the spontaneous and experimental salinomycin poisoning associated with the use of florfenicol and warns about the effects of the administration of antibiotics to animals that receive ionophores in the feed as growth promoters. A batch with 1,200 finishing pigs fed a diet containing 30ppm of salinomycin received florfenicol (60ppm via feed) to control respiratory diseases. Twenty-seven pigs had difficulty walking, tip-toe walking, muscle tremors, and anorexia seven days after the start of treatment. Twenty-two animals died, 10 recovered, and two were sent to the Laboratory of Animal Pathology of CAV-UDESC to be necropsied. The experimental reproduction of the disease was carried out to clarify the possible influence of florfenicol on salinomycin poisoning using 12 pigs divided into four groups with three animals each, treated for 16 days with diets containing no additives (Group 1), 50ppm of salinomycin (Group 2), 40ppm of florfenicol (Group 3), and 50ppm of salinomycin and 40ppm of florfenicol (Group 4). Only animals in Group 4 became ill. The clinical disease was reproduced from the ingestion of 24.67mg/kg/LW of salinomycin and 19.74mg/kg/LW of florfenicol. Both natural and experimental salinomycin poisoning associated with the use of florfenicol caused a condition of myopathy characterized in histology by hyaline degeneration and floccular necrosis of skeletal fibers, with macrophage infiltrate, associated with the figures of regeneration in skeletal muscles and multifocal areas of the proliferation of fibroblasts, being more intense in the longissimus dorsi and semimembranosus muscles. Therefore, florfenicol can cause the accumulation of ionophore salinomycin in the animal organism, resulting in a condition of toxic myopathy.

P12 Focal myositis—A case series of a rare cause of hip immobility and calf pseudotumor in children

Case report - IntroductionFocal myositis is a rare immune-mediated pseudotumour of a single skeletal muscle group. Only around 200 cases have been described in the literature, so little is known about incidence, prevalence, patient management and outcomes. This differs and should not be confused with post-viral myalgia which bears neither the histological changes nor chronicity of focal myositis. Treatment options are centred on immunomodulation and in severe cases surgical management of contractures.Case report - Case descriptionCase 1A systemically well 7-year-old girl presented with 5-weeks of right calf tenderness and swelling following a short episode of pharyngitis and generalised maculopapular rash. There was no gait abnormality, focal neurology or restriction in activity aside from fatigability on walking distances. There were no skin rashes, joint involvement, eye changes or involvement of other muscles. She had a raised creatine kinase, plasma viscosity and lactate dehydrogenase. Her other blood results were normal including an extended autoimmune screen, immunoglobulins, complement levels, ASOT and titres of mycoplasma, EBV and CMV. MRI showed evidence of extensive inflammation of the gastrocnemius and soleus. A muscle biopsy showed heavy interstitial inflammatory cell infiltrate of predominantly lymphocytes, features of fibre necrosis including phagocytosis and hyalinisation with concurrent fibre regeneration. Case 2A systemically well 14-year-old presented with 6-months of left-sided hip pain, weight loss and inability to weight-bear without crutches. On examination there was painful fixed limitation of the left hip to 45o on abduction and external rotation with bilateral mild swelling of the proximal interphalangeal (PIP) joints on both upper limbs. Otherwise, there was a full range of movement in all joints, with no rashes or other joint swelling or inflammation. Her blood tests were ANA positive 1:6000 and MRI of her hips demonstrated high T2 signal intensity in the left gluteus minimis and medius, obturator internus, obturator externus in keeping with myositis.Case report - DiscussionCase 1She was initially managed with physiotherapy and anti-inflammatory medications but then developed intermittent right calf pain, restriction in activity and tiptoe walking due to gastrocnemius contractures. She was commenced on an 8-week tapering course of oral steroids and is improving with weekly methotrexate.Case 2She received a pulse of corticosteroids followed by a course of methotrexate. There was immediate improvement in her PIP joint swellings and within a few weeks she was able to walk without crutches for the first time in 6 months; a surveillance MRI confirmed complete radiographical resolution of myositis. Unfortunately, 18 months after her diagnosis, she had developed anterior uveitis of her left eye with posterior synechiae; this responded well to steroid and cyclopentolate eye drops.Case report - Key learning pointsWe emphasise that clinicians should bear this rare differential diagnosis for in mind for consideration of early conservative management, assessment for uveitis, immunomodulation and possibly surgical correction to improve patient outcome.

DISTAL MYOPATHIES: EP.75 Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement

Hereditary distal motor neuropathies are a heterogeneous group of inherited neuromuscular disorders characterized by weakness mostly predominantly in lower limbs. We describe a family with two affected members, presenting a distal motor weakness. The propositus, a 33-year-old man, still fully ambulatory, presents with motor weakness and wasting of legs, forearms and hands. At the age of 10, the first symptoms encompass i.e., tiptoe walking, pes cavovarus and claw toes, which required multiple surgeries.

STUDY OF CLINICAL CASES OF MYOCHE’S MYOPATHY AND DIFFERENTIAL DIAGNOSIS WITH OTHER TYPES OF ADVERSE MYOPATHIES

Markesbery-Griggs myopathy, Miyoshi type (MM) is a rare type of myopathy, a form muscular dystrophy with the main involvement of the lower girdle and distal parts of the legs. Due to complexity of genetic testing, the diagnosis is mainly made on the neurological examination of the patient, which adds value to this case report. The childhood or adolescence onset of the disease is characterized initially by the calf muscles` wasting, accompanied by the severe elevation of the serum creatine kinase, as well as a slowly progressive ascending course. The disease refers to dysferlinopathies with various mutations in the DYSF gene. The dysferlin protein is localized in the plasma membrane and in the T-tubule system of skeletal muscles. Physiologically, skeletal muscles are constantly exposed to micromembrane lesions. Depending on the severity, these damages are restored using various complexes. One of the main reparative complexes is the dysferlin-dependent mechanism. Mutations can lead to a defect in the membrane repair, causing the influx of Ca 2+ into the cell, which leads to a cell`s destruction. There are three genetically identifiable types of Miyoshi myopathy: MMD1, MMD2, MMD3. The main clinical signs of the disease are the muscle weakness and atrophy, with predominant involvement of the distal parts of the lower limbs, especially in the gastrocnemius and plantar muscles. The MM causes tip toe walking disturbances and difficulties in climbing the stairs. Progression of the disease and further atrophy leads to the wasting of the lower girdle muscles, mainly gluteal ones. Peculiarity of these myopathies is the absence of cardiomyopathy, due to the immunity of cardiomyocytes to a deficiency of the protein dysferelin. Diagnosis is made on the basis of muscle biopsy and molecular genetic testing. The gold standard is immunoblotting or immunohistochemistry. One of treatment methods is the use of improperly folded dysferlin (treatment with a proteasome inhibitor MG-132) in fibroblasts with restoration of membrane sealing. The aim of this case report is to present an example of a possible clinical diagnosis of MM in a young man, in the absence of opportunities for molecular genetic testing.

Coagulation, Vascular Morphology, and Vasculogenesis in Spinal Ligament Ossification Model Mice.

In vivo studies of the vascular system in ossification of the posterior longitudinal ligament (OPLL) model mice. The aim of this study was to investigate blood coagulability, vascular morphology, and vasculogenesis capability, known as venous thromboembolism (VTE) risk factors in the ossification model, tiptoe walking (ttw) mice. Patients with OPLL are more likely to develop VTE after spinal cord injury. Capillary mesh invasion of spinal ligaments precedes spinal ligament ossification in ttw mice. Investigation on vascular systems of ttw mice may contribute to clarifying its pathology. Coagulability of blood samples from ttw and C57BL/6 (WT) mice were evaluated at 8, 16, and 24 weeks of age. Vascular morphology was assessed from a Hematoxylin-Eosin stained section by measuring vessel area. A tube formation assay was performed with endothelial cells isolated from the aorta to assess vasculogenesis. Prothrombin time was significantly shorter in ttw mice than in WT at 8 and 16 weeks. Fibrinogen had a greater increase in ttw mice than in WT at 16 weeks. The vascular area and vascular wall area were significantly smaller in ttw mice than in WT at all timepoints. The ratio of vascular wall area to vascular area was significantly smaller in ttw mice than in WT at 24 weeks. The endothelial cells from ttw mice formed significantly higher numbers of total branching points than WT cells. Ossification model mice had impaired blood coagulation and vascular morphology and high capacity for vasculogenesis. With regard to the pathogenesis of VTE, ttw mice harbor an environment that promotes the development of VTE.Level of Evidence: N/A.

Benign Acute Childhood Myositis Associated with Influenza A (H1N1) Virus Infection: Evaluation of 22 Cases

AbstractWe present the epidemiology, clinical features, and laboratory findings of 22 cases diagnosed with benign acute childhood myositis (BACM) after H1N1 infection in Konya, to observe and discuss this rare condition. This retrospective study was conducted in 22 children, diagnosed with BACM, who were brought to pediatric emergency department and pediatric rheumatology outpatient clinic of Selçuk University Medicine Faculty because of walking difficulties, between September 2017 and January 2018. Sixteen of the 22 (72.7%) patients enrolled in the study were male. The age of onset of symptoms ranged between 55 and 172 months. The interval between the onset of symptoms and the diagnosis was between 2 and 10 days. Throat pain was present in all cases as a prodromal symptom. Twelve (54.54%) of the cases presented with inability to stand or walk. Nine (40.90%) had gait abnormalities such as tip-toe walking, or a wide-based gait with a lordotic posture. Bilateral calf sensitivity was present in all cases. One patient had hypoactive deep tendon reflexes. In conclusion, although BACM is almost a typical clinical condition, we conclude that the recognition of the disease by family doctors and pediatricians is not sufficient and frequently underdiagnosed.

Shoes and Leg Braces Integrated System for Abnormal Gait Detection

In this paper, an integrated system, which includes an intelligent shoe and a refined leg brace, is introduced and is used to detect one's gait abnormalities. Four force sensing resistors (FSRs) are installed under the insole to sense the force distribution patterns of the foot. An inertial measurement unit (IMU) consisting of a three-dimensional accelerometer and a three-dimensional gyroscope, plus a bend sensor are both installed on the leg brace to sense the leg motion and the bend angle of knee, respectively. The proposed method for abnormal gait detection is based on the calculations of CoP (center of pressure) for feature generation and SVM (supporting vector machine) for multi-pattern classification. Testing results show that the system is qualified in the classification of four different types of gaits: tiptoe walking, toe-in walking, toe-out walking as well as normal walking.

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

BackgroundHereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases’ pathogenesis.Case presentationWe present a consanguineous Qatari family with two brothers, 9 and 3 years, who displayed a characteristic phenotype of early onset and markedly-severe spasticity with tiptoe walking, delayed dysarthric speech, persistent truncal hypotonia, and multiple variable-sized areas of brownish skin discoloration appearing at different places on the body. A clinical diagnosis suggestive of complex hereditary spastic paraplegia (HSP) was set after the family had the second affected child. Whole genome sequencing identified a novel homozygous NT5C2 splice site mutation (NM_012229.4/NM_001134373.2: c.1159 + 1G > T) that recessively segregated in family members. Brain MRI revealed dysgenic and thin corpus callosum (TCC) with peri-trigonal white matter cystic changes in both affected boys, whereas a well-developed corpus callosum with normal white matter was shown in their apparently normal brother, who found to be a carrier for the mutant variant. This mutation led to skipping of exon 14 with removal of 58 amino acid residues at the C-terminal half. The aberrantly spliced NT5C2 showed substantial reduction in expression level in the in-vitro study, indicating marked instability of the mutant NT5C2 protein.ConclusionThe present report expands the phenotypic spectrum of SPG45 and confirms NT5C2-SPG45 as a member of the rare TCC SPG-subtypes. Homozygous alteration in NT5C2 seems essential to produce central white matter developmental defects. The study highlights the importance of cytosolic II 5’-nucleotidase (NT5C2) in maintaining the normal balance of purines’ pool in the brain, which seems to play a pivotal role in the normal development of central white matter structures.

Combined flexor hallucis longus tendon transfer and gastrocnemius recession for reconstruction of gapped chronic achilles tendon ruptures

ObjectiveThe aim of this study was to assess the functional outcomes after a combined FHL transfer and a gastrocnemius recession for treatment of chronic ruptures of Achilles tendon with a gap and to investigate the patient's satisfaction about the great toe function after transfer. Material and methods19 patients with chronic rupture of the Achilles tendon with a gap were treated with a flexor halluces longus tendon transfer combined with a gastrocnemius recession, Clinical diagnosis depends on the presence of gap in the tendon on examination, inability of tip toe walking on the affected side and positive calf-squeeze test, MRI was used to confirm the clinical diagnosis. American Orthopedic Foot & Ankle Society hind foot score was used for assessment of the results. ResultsThe AOFAS score improved significantly from a mean of 65 preoperatively to 94 at the last follow up (p<0.001), there was no significant difference in the final outcome between patients with FHL tendon weaved through the stump of the Achilles tendon and those with trans osseous tunnels, the mean AOFAS score at the last follow up was 94.2, 93.8 respectively, no patient complained of big toe dysfunction. ConclusionManagement of chronic rupture of the Achilles tendon with a gap with flexor halluces longus tendon transfer combined with a gastrocnemius recession is a safe and reliable method with a significantly improved functional outcome, muscle advancement through gastrocnemius recession decreases the length of the gap without affecting the muscle function, flexor halluces longus tendon transfer doesn't harm the big toe function.

The 3-Step Pyramid Insole Treatment Concept for Idiopathic Toe Walking.

Fifty-four articles in English, German, and Spanish were reviewed. There were comparative, retrospective or case studies, classifications or literature reviews and they were divided according with these categories. All the literature reviewed was published between 2000 and 2015. There are some studies that proved the 3-step pyramid insole treatment concept as an effective option compared with other therapeutic modalities such as physical therapy, casting, botolinum toxin type A (BTX), and surgery. There is a wide spectrum regarding the therapeutic options for children with ITW, from physical therapy to surgery options. However, any of these treatment modalities have been reported to be fully successful for the whole toe walking population. Some procedures seem to have achieved faster results or seem to have longer lasting effects. Therefore, further research on the causes of ITW is recommended. Therapeutic, Level II: Systematic review, prospective, comparative.

Metric characteristics of a new test for the evaluation of dynamic balance

The aim of the study was to determine psychometric characteristics of a new test for the evaluation of dynamic balance in healthy individuals. The research was conducted on a sample of 60 female students (21.18±.86 years). The participants performed three trials of the new test for each of the two different ways of walking. The results of reliability have shown high values of factor loadings (.91-.97) and standardized Cronbach’s alpha values (.87-.98), as well as the average inter-item correlation values (full feet walking, tip toe walking and the number of steps) (.78-.94). High values of factor loadings (.88-.97) and the fact that the total explained variance was very high (93.3%), with a relatively small variability between the attempts, suggests that all the rules for consistency of testing have been satisfied and that the new test is reliable enough for its application in practice.

Contributors of stiff knee gait pattern for able bodies: Hip and knee velocity reduction and tiptoe gait

Stiff-knee gait (SKG) is commonly encountered in clinic; many other gait abnormalities are seen together with this pathology. Simulation studies revealed that diminished knee flexion (KF) velocity and increased knee extension moments are strongly related with SKG. This study aimed to determine whether tiptoe walking and hip-knee flexion velocity reduction causes SKG pattern in healthy participants. MethodsFourteen able-bodied adults’ (Av. age: 23.0±2.4) heel–toe (N), tiptoe (T), and walking with 5% body weight on both shanks (W) were analyzed using 3D gait analysis by controlling cadence (90step/min). Repeated measures analysis of variance was used followed by Bonferroni correction (p<0.05). ResultsWalking velocity and cadence were similar for all conditions (p>0.1). Maximum hip flexion velocity was reduced (15%) significantly as well as the KF velocity (10%) in the W condition. The peak knee flexion (PKF) (8.3% for T, 8.6% for W) and total knee range (10.9% for T, 13% for W) were reduced for both conditions (p<0.05). The knee range in early swing and the duration between toe-off and PKF were reduced only in the weighted-leg condition (p<0.05). ConclusionsSlow hip and knee flexion diminished all SKG parameters except timing of PKF. Tiptoe gait itself generated a borderline SKG pattern by reducing the PKF and total knee range. By considering that tiptoe gait and SKG commonly seen together, some of the SKG contributors can be treated by normalizing the ankle motion in the stance and increasing the hip–knee flexion velocity by rigorously planned muscle lengthening procedures and effective strengthening exercises.

PP09.13 – 2832: A case of acute rhabdomyolysis with intermittent myositis and persistently low levels of Parvovirus B19 infection

Objective Persistent parvovirus B19 infection has been reported as an uncommon cause of fatigue and arthralgia in adults. Here, we present the first case of an otherwise healthy nine-year-old child with evidence of persistent parvovirus B19 infection associated with a relapsing myopathy, an acute episode of severe rhabdomyolysis at age eight. Methods This 9 year old girl has 5 year history of recurrent episodes involving painful calves, reduced activity, urinary symptoms with dysuria and frequency. Her activity level is markedly reduced during such episodes with tip toe walking. These episodes occur at frequency of 1–2 times every year and have never been investigated in past, have been managed at primary level as presumed UTI's, although there have been no positive cultures. At the age of 8 years, referred for the first time with lower limbs aches and pains and cola coloured urine. Examination revealed slight tenderness of calves, tip toe walking, but rest of neurology was normal. Results Investigations suggested acute rhabdomyolysis and her CK was above 52,000 U/L, LDH 11,960. She was managed conservatively and responded well quickly. Her CK and LDH normalized quickly, however CK has remained slightly elevated since then. (355 U/L 5 months ago). Acylcarnitines, free carnitine, organic acids, amino acids, VLCFA, Fatty acid oxidation flux results were essentially normal. A quadriceps femoris muscle biopsy showed no glycogen or lipid storage, but changes suggestive of chronic low grade infection. Parvovirus B19 was positively identified by customized Taqman low-density array (TLDA) assay in muscle. Serology was positive for parvovirus B19 IgG, but negative for IgM. Conclusion We suggest this is a case of recurrent rhabdomyolysis due to persistent low level parvovirus B19 infection. The result of a very detailed rhabdomyolysis panel is still awaited, but so far no genetic cause has been found.

Alteration in chondroitin sulfate proteoglycan expression at the epicenter of spinal cord is associated with the loss of behavioral function in Tiptoe walking Yoshimura mice.

The objective of this study was to explore the correlation between the alteration in chondroitin sulfate proteoglycan (CSPG) expression at the epicenter of spinal cord and the loss of behavioral function in tiptoe walking Yoshimura mice. The tiptoe walking Yoshimura mice (twy) and Institute of Cancer Research (ICR) mice, aged 20 and 26weeks, were used in the present study. The behavior assessment, micro-computed tomography and immunofluorescent staining were performed. The compressed spinal cord was histologically analyzed. The results showed that the expression of CSPG was statistically higher at the compressed spinal cord for twy mice compared with that at the normal spinal cord for ICR mice. At the 26th week, a large ossification block at the posterior longitudinal ligament of C1-3 was obviously observed at the micro-CT image We observed the BMS Score was significantly correlated with the expression of glial fibrillary acidic protein, CSPG and hyaluronan (P<0.05). These findings suggest that compression injury induces the higher CSPG expression at the compressed spinal cord in the twy mice. Furthermore, the alteration in CSPG expression at the epicenter of spinal cord is associated with the loss of behavioral function in twy mice.

G.P.295: Relationship between ankle instability and disability in children with Charcot-Marie-Tooth disease

Children with Charcot-Marie-Tooth disease (CMT) often experience ankle sprains and associated trips or falls. No research has investigated ankle instability in children with CMT and its relationship with overall disability. Thirty-seven children (46% male, 11±3.1yrs) with CMT completed the 9-item Cumberland Ankle Instability Tool-Youth (CAITY) and the 11-item CMT Pediatric Scale (CMTPedS). The CAITY is a validated questionnaire measuring a child's perception of ankle stability during several activities. A score is generated between 0–30 and scores Using the original r =.996, p r =−.495, p =0.002), indicating the greater the impact of CMT on disability, the higher the severity of ankle instability. Other significant correlations were seen between CAITY scores and self-reported symptoms of foot pain, daily trips or falls, sensory symptoms, leg cramps, and direct measures of pinprick sensation, difficulty tiptoe walking, dorsiflexion strength and the six minute walk test. A high frequency of ankle instability was seen in children with CMT and ankle instability was significantly related to disability. The CAITY may be a useful additional outcome measure of rehabilitative and surgical interventions targeting ankle problems in children with CMT.

Secondary Nerve Lengthening to Obtain Full Knee Extension in Popliteal Pterygium Syndrome

Microsurgical nerve lengthening was performed in two siblings presenting a popliteal pterigium syndrome with a knee flexion contracture of 80 degrees. After the first attempt for nerve lengthening and knee extension elsewhere, a repeated lengthening was required due to continuing tip-toe walking and recurrent knee contracture at the age of 3 years. An extensive external and internal interfascicular microsurgical neurolysis resulted in a lengthening of the nerves. A full length of leg procedure had to be performed, inclusive of Achilles tendon lengthening to obtain a complete extension of the knee and a 90-degree ankle flexion. Maintaining the leg in a fully extended position was obtained with a dynamic splinting in the first month after the operation. When timing the operation we have to consider the importance of adequate precision of the microsurgical neurolysis, down to the identification of the Fontana bands, and the adequate postoperative splinting.

Inflammatory cascades mediate synapse elimination in spinal cord compression

BackgroundCervical compressive myelopathy (CCM) is caused by chronic spinal cord compression due to spondylosis, a degenerative disc disease, and ossification of the ligaments. Tip-toe walking Yoshimura (twy) mice are reported to be an ideal animal model for CCM-related neuronal dysfunction, because they develop spontaneous spinal cord compression without any artificial manipulation. Previous histological studies showed that neurons are lost due to apoptosis in CCM, but the mechanism underlying this neurodegeneration was not fully elucidated. The purpose of this study was to investigate the pathophysiology of CCM by evaluating the global gene expression of the compressed spinal cord and comparing the transcriptome analysis with the physical and histological findings in twy mice.MethodsTwenty-week-old twy mice were divided into two groups according to the magnetic resonance imaging (MRI) findings: a severe compression (S) group and a mild compression (M) group. The transcriptome was analyzed by microarray and RT-PCR. The cellular pathophysiology was examined by immunohistological analysis and immuno-electron microscopy. Motor function was assessed by Rotarod treadmill latency and stride-length tests.ResultsSevere cervical calcification caused spinal canal stenosis and low functional capacity in twy mice. The microarray analysis revealed 215 genes that showed significantly different expression levels between the S and the M groups. Pathway analysis revealed that genes expressed at higher levels in the S group were enriched for terms related to the regulation of inflammation in the compressed spinal cord. M1 macrophage-dominant inflammation was present in the S group, and cysteine-rich protein 61 (Cyr61), an inducer of M1 macrophages, was markedly upregulated in these spinal cords. Furthermore, C1q, which initiates the classical complement cascade, was more upregulated in the S group than in the M group. The confocal and electron microscopy observations indicated that classically activated microglia/macrophages had migrated to the compressed spinal cord and eliminated synaptic terminals.ConclusionsWe revealed the detailed pathophysiology of the inflammatory response in an animal model of chronic spinal cord compression. Our findings suggest that complement-mediated synapse elimination is a central mechanism underlying the neurodegeneration in CCM.