Evolution of foot and ankle manifestations in children with CMT1A

Burns, Joshua; Ryan, Monique M.; Ouvrier, Robert

doi:10.1002/mus.21140

Cited by 101 publications

(142 citation statements)

References 46 publications

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“…Previous research has demonstrated that despite an increase in ankle dorsiflexion strength as children with CMT1A age, strength scores move further away from the age-equivalent norms. 6 The relationship between increasing age and calf cramp in CMT1A is supported by previous research identifying a 79% prevalence of lower limb muscle cramp in adults with CMT. 1 Of the markers of CMT1A progression observed in this study (e.g., foot alignment, ankle contracture, balance, and nerve conduction studies), only hand tremor was significantly correlated with calf cramp.…”

supporting

confidence: 53%

Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A

Blyton¹,

Ryan²,

Ouvrier³

et al. 2011

Neurology

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Objectives: To identify correlates of calf cramp in children with Charcot-Marie-Tooth disease type 1A (CMT1A).Methods: Throughout Australia, 81 children aged 2-16 years with CMT1A were recruited. Measures of strength, ankle range, foot posture, balance, agility, endurance, gait, and neurophysiology were collected. Post hoc logistic regression analyses were performed to identify independent predictors of calf cramp.Results: Of the 81 children, 26 (32%) reported calf cramp, and 1 child each reported toe, quadriceps, or arm cramp. Calf cramp was associated (p Ͻ 0.05) with older age; the presence of hand tremor; stronger foot inversion, eversion, dorsiflexion, and plantarflexion; and better performance in long-jump and 9-hole peg tests. Logistic regression analysis revealed only increasing age (odds ratio [OR] 1.32, 95% confidence interval [CI] 1.11-1.58; p ϭ 0.002) and the presence of hand tremor (OR 3.81, 95% CI 1.18-12.56; p ϭ 0.028) as independent predictors of calf cramp. Conclusion:Calf cramps are common in children with CMT1A and worsen with age. This study revealed a previously unrecognized link between cramp and hand tremor in children with CMT1A. Further investigation of proposed mechanisms and risk factors common to both cramp and tremor will contribute to our understanding of these common complications of CMT1A.

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supporting

confidence: 53%

Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A

Blyton¹,

Ryan²,

Ouvrier³

et al. 2011

Neurology

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“…25 The GAITRite is a 420cm length mat, which has 16 128 sensors at a resolution of 1/cm 2 and a sample rate of 80 Hz. The reliability and validity of the GAITRite has been well established in children.…”

Section: Procedures and Materialsmentioning

confidence: 99%

Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1

Champion

Rose

Payne

et al. 2014

Develop Med Child Neuro

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AIM Motor skill impairment and cognitive dysfunction are commonly reported features of neurofibromatosis type 1 (NF1). We characterized and determined the relationship between motor impairment, gait variables, and cognitive function in children and adolescents with NF1.METHOD Motor function, gait, and neurocognitive abilities were assessed in 46 children and adolescents with NF1 (26 males, 20 females; age range 7-17y; mean age 11y 1mo, SD 3y 2mo). Tests to establish correlations between neurocognitive, motor, and gait variables were performed.RESULTS Compared with normative data, 28/39 of our NF1 cohort demonstrated impaired performance for balance and upper limb coordination and 16/38 for running speed and agility. Gait data revealed a strategy to preserve balance at the expense of velocity, with the unexpected exception of a tendency for reduced base of support. Neurocognitive testing confirmed mean IQ in the low average range (86.0) and deficits in spatial working memory and strategy generation. Significant correlations between a number of neurocognitive measures and motor abilities and gait were identified. The largest associations were between gait width and spatial working memory (r=0.594) and running speed and agility with strategy generation (r=0.549). INTERPRETATIONWe have identified a relationship between balance, running speed and agility, gait, and cognition in children with NF1. Findings suggest a shared abnormal neurodevelopmental process underlying some cognitive and motor abilities in NF1. Results are discussed within the context of evidence highlighting abnormal dopamine-mediated corticostriatal circuitry in NF1.Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with a birth incidence of 1 in 2700 individuals.1 Caused by a mutation in the gene encoding neurofibromin on chromosome 17q11.2, NF1 is characterized by a diverse range of cutaneous, neurological, and neoplastic manifestations, including caf e-au-lait macules, skinfold freckling, neurofibromas, and optic pathway tumours. 2Skeletal anomalies have also been documented, including scoliosis, tibial dysplasia/pseudoarthrosis, and sphenoid wing dysplasia. Neurocognitive impairment is also well documented in children with NF1. 3,4 Although intelligence tends to be only mildly affected, specific impairments on measures of attention, executive function, language, and visual perception are common. Given the frequency and severity of cognitive deficits, it is not surprising that up to 70% of children with NF1 underachieve at school, with formal learning disability estimated to be present in approximately 50% of children. 5There is an emerging body of evidence demonstrating motor impairment as a common feature of NF1 in childhood. 4,6,7 Early research in this area documented problems with manual dexterity, balance, and ball skills, with 32% of children exhibiting severe impairment of coordination skills. Reduced motor competency may contribute to a range of poor outcomes for children with NF1. Gross motor skill impairments, fo...

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“…Özellikle aşil tendonunda oluşan kontraktürler de bu kompansatuar postürün sonucunda sekonder problemler olarak gelişirler (24,25). Charcot-Marie-Tooth'da ise ayak ve ayak bileği kuvvetinde seçici zayıflık ve imbalansa bağlı limitli bir ayak bileği -ya da ayak bileği ekini-bu hastalığa sahip çocuk ve yetişkinlerde görülen ortak bir bozukluktur (8).…”

Section: Discussionunclassified

“…Bu kısalıklar DMD ve CMT'de kas zayıflığı ve denge bozukluğunun karakteristik paternlerine bağlı olarak vücut ağırlık merkezindeki değişimlerin ve süregelen postüral kompansasyonların sonucu olarak meydana gelmektedir (5,6). Bu durum hastaların mobilite ve dengelerini limitlerken, sağlıkla ilgili yaşam kalitelerinde de azalmaya sebep olur (3,7,8).…”

Section: Introductionunclassified

Farkli Nöromusküler Hastaliklarda Ayak Bi̇leği̇ Li̇mi̇tasyonunun Yürüme Beceri̇si̇ Üzeri̇ne Etki̇si̇

Kaya¹,

Alemdaroğlu²,

Yılmaz³

et al. 2014

Turk J Physiother Rehabil

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Amaç: Çalışmanın amacı farklı bölgesel kas zayıflığına sahip iki grupta (proksimal ve distal) ayak bileği limitasyonunun, yürüme becerisi üzerine olan etkisini araştırmak ve karşılaştırmak idi.Yöntem: Çalışmaya Brooke Alt Ekstremite Fonksiyonel Sınıflandırması'na göre devre 1-3, primer olarak proksimal kas tutulumu olan 20 çocuk (yaş ortalaması:9.05±3.1 yıl), ve distal kas tutulumu olan (yaş ortalaması:12.95±3.3 yıl) diğer 20 çocuk olmak üzere, toplam 40 çocuk dahil edildi. Çocukların demografik bilgileri kaydedildi. Ayak bileği eklem limitasyonu gonyometre ile ölçüldü. Yürüme kapasiteleri, 6 dakika yürüme testi (6DYT) ile değerlendirildi. 6 dakikadaki yürüme mesafesi, attıkları tur, adım sayısı, adım uzunlukları ve kadansları kaydedildi. Sonuçlar:Çalışmada ayak bileği dorsifleksiyon limitasyonu ve 6 dakikada yürüdükleri toplam mesafe açısından gruplar arasında fark bulunmadı (p>0.05). 6DYT'nin diğer performans parametreleri açısından, test sırasındaki adım uzunluklarında distal kas tutulumlu grup lehine istatistiksel olarak anlamlı fark bulundu (p<0.01). Proksimal tutulumlu grupta 6 dakika süre-since yürünen toplam mesafe ve sağ ve sol ayak bileği limitasyon sonuçları arasında; sağ (r= -0.579, p= 0.01) ve sol (r=-0.445, p= 0.05) negatif yönde, orta kuvvette, istatistiksel olarak anlamlı ilişki bulundu (p<0.05).Tartışma: Çalışmanın sonuçları NMH'ye sahip bireylerde, özellikle de proksimal kas zayıflığı-nın hakim olduğu musküler distrofili çocuklarda hastalıklarının erken dönemlerinden itibaren ayak bileği eklem hareket açıklığının yürüme performansı üzerindeki önemini ortaya koymuş-tur.Anahtar Kelimeler: Nöromusküler hastalıklar; ayak eklemleri; yürüme RESEARCH ARTICLE EFFECT OF ANKLE JOINT LIMITATION ON WALKING ABILITY IN DIFFERENT NEUROMUSCULAR DISEASES ABSTRACTPurpose: In this study, we aimed to investigate the impact of the ankle limitation on the walking ability among two groups that have different spatial distribution of the weakness. Methods:In total, 40 children at the levels 1-3 of the Brooke Lower Extremity Scale are included in this study. 20 of them have been diagnosed distal muscle weakness (mean ages: 12.9±3.3 year), and the other 20 have been proximal muscle weakness (mean ages: 9±3.1). The demographic information were recorded. Ankle joint limitation were measured with goniometer. Their ambulatory capacities were evaluated with the 6 minutes walk test (6MWT). Total walking distances in 6 minutes, strolls that taken, step counts, stride lengths, and cadences were saved.Results: There was not any significant difference between the groups with respect to the limitations in ankle joints' movement and 6 minute total walking distance (p > 0.05). For the other 6MWT walking parametres, there was a statistically significant difference on the stride lengths in the test in favour of (to the good) the group with distal muscle weakness (p< 0.01). There was a negative correlation between the right (r=-0.579, p=0.01) and left (r=-0.445, p= 0.05) ankle dorsiflexion limitations and 6MWT results in the group with ...

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Evolution of foot and ankle manifestations in children with CMT1A

Cited by 101 publications

References 46 publications

Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A

Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A

Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1

Farkli Nöromusküler Hastaliklarda Ayak Bi̇leği̇ Li̇mi̇tasyonunun Yürüme Beceri̇si̇ Üzeri̇ne Etki̇si̇

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