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The cavovarus foot
Published in Maneesh Bhatia, Essentials of Foot and Ankle Surgery, 2021
The pes cavus encompasses a wide spectrum of foot shapes with an elevated medial longitudinal arch; mainly associated with hindfoot varus, ankle equinus and forefoot adduction and plantarflexion. Almost two-thirds of adults with a symptomatic cavus foot have an underlying neurological condition (3). The rest of patients with a heightened arch are generally labelled as idiopathic. Some neurologists would argue that these patients probably have an undiagnosed, inconsequential, underlying subtle neurological condition (Tables 9.1 and 9.2).
Pes Cavus
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
This patient has pes cavus of the feet and . .. (list all the signs you have found); put together, the pes cavus constitutes a manifestation of (give whatever your diagnosis is). If you have not reached a diagnosis just give your physical findings. It may well be that pes cavus is the only physical finding.
Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Abnormalities of the joints may be evident early in childhood (Figure 77.1), at least by the age of five years. Joints are stiff and angulated [14]. The claw hand may be identical to that of Hurler disease. Genu valgum is present early. There may be pes cavus and a stiff painful foot. Carpal tunnel syndrome is a common complication due to entrapment of the median nerve [15]. Distal interphalangeal acute angulation gives a trigger-finger appearance [15]. Degenerative arthritis of the hip has been reported [16] along with large femoral cysts and pathologic fracture, but this appears to be rare. Stature is normal.
Innovative treatment for pes cavovarus: a pilot study of 13 children
Published in Acta Orthopaedica, 2018
Ignacio Sanpera Jr, Guillem Frontera-Juan, Julia Sanpera-Iglesias, Laura Corominas-Frances
In summary, we believe that this technique may be useful for the treatment of pes cavovarus during childhood, although its use should be limited to cavovarus associated with weakness or the idiopathic form. The technique follows the principles laid down by Mosca (2001) for the treatment of pes cavus. First, the segmental deformities should be corrected while preserving joint motion (1st metatarsal hemiepiphysiodesis corrects the fall of the metatarsal). Next, the remaining muscle forces should be balanced out (achieved by plantar fascia release). Third, this leaves open the possibility of reasonable treatment options because the foot remains almost untouched.
Designing phase II clinical trials in Friedreich ataxia
Published in Expert Opinion on Emerging Drugs, 2021
What has been learned from phase II studies in FRDA? At this point, there have been many successes when one realizes that the usual goal of phase II studies is not final proof of efficacy, but preparation for phase III studies. In general, FRDA phase II studies have successfully identified new adverse events (such as the elevation of LFT by Omaveloxolone) that must be monitored in further studies. In addition, physiological biomarkers/clinical outcome measures of potential utility in phase III trials have been identified, including exam-based scales (mFARS), performance measures (timed walks, 9-hole peg board, exercise testing) and a few biochemical biomarkers (frataxin levels in peripheral tissues, platelet metabolic testing). However, there has been far less success in aiding future trials through other components of phase II trials. In general, FRDA phase II studies have not prodded information on further focusing of cohort properties. Studies have generally started with the youngest group allowable based on existing safety testing, with the data from such studies not identifying a more selective age group to target. With the exception of the presently unexplained effect of pes cavus on responsiveness of Omaveloxolone, no other selection or stratifying criteria for future studies have been revealed. Finally, the phase II studies have found at most, limited sensitive biomarkers to consider for use as potential outcomes. In addition, except for extensive dose optimization of Omaveloxolone, little dose optimization has occurred. As a result, the major message communicated by the FRDA phase II studies has been the effect on underpowered physiological biomarkers/clinical outcomes for which results have been truly mixed. All of the FRDA phase II studies provided marginal evidence of benefit, but only Omaveloxolone has had further success, though some agents remain in phase II studies.
Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease
Published in Physiotherapy Theory and Practice, 2021
Cyntia Rogean De Baptista, Adriana H. Nascimento-Elias, Beatriz Garcia, Amanda Testa, Paula Calori Domingues, Edson Zangiacomi Martinez, Wilson Marques Jr, Ana Claudia Mattiello-Sverzut
Lower limb strength and flexibility are of special interest since they are affected when gait is disturbed (Guillebastre, Calmels, and Rougier, 2013; Kennedy et al., 2017), and postural instability is also present (Alves de Baptista et al., 2018; de França Costa et al., 2018; Lencioni et al., 2014; Mattiello-Sverzut et al., 2015; Monti Bragadin et al., 2015). Similarly, a more precise quantification of foot posture and alignment (Wines, Chen, Lynch, and Stephens, 2005) can facilitate the monitoring of CMT’s progression of distal deformities. The Postural Foot Index (PFI) (Redmond, Crosbie, and Ouvrier, 2006) is a suitable tool to evaluate the feet of children (Morrison and Ferrari, 2009) including those with CMT (Burns, Ryan, and Ouvrier, 2009; Rose, Burns, and North, 2010). The underlying mechanisms of pes cavus development in CMT remain unclear; however, they seem to be related to muscle imbalance between the agonist/antagonist extrinsic foot muscles (Burns, Ryan, and Ouvrier, 2009) and/or atrophy of the intrinsic foot muscles (Berciano et al., 2011) and/or decreased ankle range of motion (ROM). It is important to take into consideration childhood and adolescence development and maturation, which are directly related to muscle strength. Thus, the ratio of strength, and not its actual direct values, can be a reliable option for comparing different ages and stages of development, since they provide information about the balance and imbalance of muscle strength (agonist/antagonist) (Burns, Redmond, Ouvrier, and Crosbie, 2005). Functional problems are associated with deformity, including balance limitations (Nardone, Grasso, and Schieppati, 2006), changes in gait (Kennedy et al., 2017; Newman et al., 2007; Õunpuu et al., 2013), and ankle instability (Burns et al., 2012a; Mandarakas, Hiller, Rose, and Burns, 2013), which ultimately impair activities of daily living and lead to the gradual decline in the quality of life of this population (Allard et al., 2014).