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Genetics
Published in Manoj Ramachandran, Tom Nunn, Basic Orthopaedic Sciences, 2018
Peter Calder, Harish Hosalkar, Aresh Hashemi-Nejad
Onset of symptoms is typical in the third decade. Spinal decompression may be indicated in these circumstances. Because instability rarely develops, primary fusion is generally not indicated. Between 10% and 15% of patients retain kyphosis, which can increase the risk of symptomatic stenosis. Bracing is indicated if the deformity is accompanied by significant and progressive structural changes in the anterior vertebral bodies. Failed bracing needs posterior spinal fusion. The treatment of genu varum usually involves surgical correction by proximal tibiofibular realignment osteotomy.
Paediatric orthopaedic disorders
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Genu varum in a 2½-year-old child is not physiological. Metabolic conditions like rickets must be ruled out and infantile Blount’s disease is a strong possibility. It can be treated with bracing, and a medial upright knee-ankle-foot orthosis with an elastic calf strap is used. Older children with a similar presentation do not respond to bracing and may need surgery either in the form of corrective osteotomies or stapling of the growth plate.
Genu varum
Published in Benjamin Joseph, Selvadurai Nayagam, Randall Loder, Ian Torode, Paediatric Orthopaedics, 2016
Genu varum is more likely to be pathological if it is: Present after two years of age;Unilateral;Associated with shortening (of the limb or of stature);Severe;In a child with obesity.
Dynamic balance and gait speed improve in persons with Parkinson´s disease after Lee Silverman Voice Treatment (LSVT)-BIG training: a single subject experimental design study
Published in European Journal of Physiotherapy, 2020
Tale Tangen Kleppang, Lone Jørgensen
Participant 2 was a 70-year-old-man, diagnosed with PD in late 2010. He lived in a single-family home with his wife, walked without walking aids and was self-reliant in activities of daily living. He described his main problems as decreased fine motor skills, such as writing, increased time needed with eating, and problems with speech articulation. There was little variation of his PD symptoms throughout the day. For medication, he used Sinemet 100 mg three times a day and Requip depot twice a day. Prior to the study, he participated in a physiotherapy supervised exercise group twice a week and individually tailored strength training once a week. At the beginning of the study, the physiotherapist who implemented the measurements, described the participant as having a flexed posture, bilateral genu varum, protracted shoulders, slightly flexed elbows and a forward head posture in standing. The right elbow was held in more flexion than the left elbow. During ambulation, the flexed posture persisted. Moreover, the physiotherapist described that he walked quickly, but had decreased rotation of the trunk, reduced left arm swing and almost no right arm swing. In sitting, trunk and neck rotation were reduced, especially towards the right side. Furthermore, internal rotation of the left shoulder as well as flexion, abduction and external rotation in both shoulders were limited.
Cervical dural calcification and cervical myelopathy in X-linked hypophosphataemic rickets: a case report and review of the literature
Published in British Journal of Neurosurgery, 2019
Ali A. Najefi, Daniel B. Beder, Shiraz A. Sabah, Kia Rezajooi
Hypophosphatemic rickets is a group of disorders that result from a defect in renal tubular transport of phosphate, leading to phosphate wasting and hypophosphatemia. The more common form is genetic with dominant inheritance via the X-chromosome (XLHR) and has a prevalence of 1 in 20,000.1 This disorder is characterised by rickets, osteomalacia, short stature, and lower limb deformities, specifically genu varum.1 Unlike other forms of hypophosphatemia rickets, XLHR presents with normal vitamin D levels. This occurs despite the presence of low phosphate levels as abnormal regulation of vitamin D and increased resistance, compensate for this. As there is X-linked inheritance, the disorder is present in both males and females but males will experience the disease more severely as they are hemizygous whereas females have another X-chromosome which partly compensates for the deficiency. Control of phosphate and Vitamin D re-absorption at the renal tubules is achieved by Fibroblast Growth Factor 23 (FGF-23).1 This In turn is controlled by the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX gene). A mutation in the PHEX gene results in XLHR from lack of regulation of FGF-23 resulting in phosphate wasting. XLHR may directly affect thickening of the vertebral laminae, because the PHEX protein is highly expressed in osteoblasts.2 Therefore, it may play a more important role in sustaining phosphate homeostasis than previously thought.
Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review
Published in Disability and Rehabilitation, 2022
Constantinos Constantinides, Sarah H. Landis, James Jarrett, Jennifer Quinn, Penelope J. Ireland
Achondroplasia (ACH) is the most common type of skeletal dysplasia with a prevalence of approximately 1 in 25 000 live births worldwide [1–4]. It is an autosomal dominant disorder with the majority of cases (>95%) related to a mutation (gly380Arg) in the gene encoding for fibroblast growth receptor 3 (FGFR3) [1,5]. The most obvious clinical feature of achondroplasia (ACH) is severe short stature (approximately −6 height standard deviation score [SDS] versus average stature per World Health Organization [WHO] adult height reference) with disproportionate bone growth manifesting as a long narrow trunk and rhizomelic shortening of the proximal part of the arms and legs [6–8]. In addition to the core clinical feature of disproportionate short stature, the impaired endochondral skeletal growth in ACH manifests in multiple bone growth related morbidities such as leg bowing (or genu varum), foramen magnum stenosis and cervicomedullary compression, spinal curvature and stenosis, hydrocephalus, obstructive sleep apnea and recurrent otitis media [1,6,9,10]. The resultant short stature, shortened limbs, and medical complications substantially impact both physical and psychosocial aspects of daily life, and consequently patient quality of life (QoL), starting from a very early age [8,10]. Specific physical manifestations include functional limitations or decreased level of independence in carrying out activities of daily living (ADLs), such as grooming, bathing, grocery shopping, preparing meals, and climbing stairs [11], while psychosocial function can be negatively impacted by depression, anxiety, low self-esteem, problems with peer relationships (e.g. bullying) and other behavioral and emotional problems.