scholarly journals Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot‐Marie‐Tooth disease 1A

2019 ◽  
Vol 24 (3) ◽  
pp. 283-293 ◽  
Author(s):  
Jens Spiesshoefer ◽  
Carolin Henke ◽  
Hans‐Joachim Kabitz ◽  
Esra Akova‐Oeztuerk ◽  
Bianca Draeger ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Phrenic Nerve ◽  
Respiratory Muscle ◽  
Respiratory Muscle Weakness ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Nerve Involvement ◽  
Tooth Disease

Phrenic Nerve Involvement in Charcot-Marie-Tooth Disease

CHEST Journal ◽  
1990 ◽  
Vol 98 (4) ◽  
pp. 1043 ◽  
Author(s):  
Richard W. Snyder ◽  
Henry S. Mishel ◽  
G. Chris Christensen
Keyword(s):  
Phrenic Nerve ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Nerve Involvement ◽  
Tooth Disease

scholarly journals A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement

2014 ◽  
Vol 54 (11) ◽  
pp. 911-915 ◽  
Author(s):  
Nobuko Kawakami ◽  
Kenichi Komatsu ◽  
Hirofumi Yamashita ◽  
Kengo Uemura ◽  
Nobuyuki Oka ◽  
...  
Keyword(s):  
Respiratory Muscle ◽  
Novel Mutation ◽  
Trna Synthetase ◽  
Disease Type ◽  
Muscle Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2

2015 ◽  
Vol 74 (5-6) ◽  
pp. 310-314 ◽  
Author(s):  
Catarina Andrade Garcez ◽  
Eduardo Luis Aquino Neves ◽  
Saulo Maia D''avila Melo ◽  
Paula Santos Nunes ◽  
Lidiane Carine Lima Barreto ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Pulmonary Function ◽  
Respiratory Muscle ◽  
Disease Type ◽  
Respiratory Muscle Strength ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Cranial nerve involvement in Charcot–Marie–Tooth Disease

2017 ◽  
Vol 37 ◽  
pp. 59-62 ◽  
Author(s):  
Nirav Das ◽  
Savannah Kandalaft ◽  
Xiao Wu ◽  
Ajay Malhotra
Keyword(s):  
Cranial Nerve ◽  
Cranial Nerve Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Nerve Involvement ◽  
Tooth Disease

scholarly journals Predicting gait adaptations due to ankle plantarflexor muscle weakness and contracture using physics-based musculoskeletal simulations

2019 ◽  
Author(s):  
Carmichael F. Ong ◽  
Thomas Geijtenbeek ◽  
Jennifer L. Hicks ◽  
Scott L. Delp
Keyword(s):  
Cerebral Palsy ◽  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Charcot Marie Tooth ◽  
Walking Gait ◽  
Charcot Marie Tooth Disease ◽  
Optimization Framework ◽  
Head Stability ◽  
Toe Walking ◽  
Tooth Disease

AbstractDeficits in the ankle plantarflexor muscles, such as weakness and contracture, occur commonly in conditions such as cerebral palsy, stroke, muscular dystrophy, and Charcot-Marie-Tooth disease. While these deficits likely contribute to observed gait pathologies, elucidating cause-effect relationships is difficult due to the often co-occurring biomechanical and neural deficits. To elucidate the effects of weakness and contracture, we systematically introduced isolated deficits into a musculoskeletal model and generated simulations of walking to predict gait adaptations due to these deficits. We developed a planar model containing 9 degrees of freedom and 18 musculotendon actuators, and an optimization framework through which we imposed simple objectives, such as minimizing cost of transport while avoiding falling and injury, and maintaining head stability. We first validated that our model could generate gaits that reproduced experimentally observed kinematic, kinetic, and metabolic trends for two cases: 1) walking at prescribed speeds between 0.50 m/s and 2.00 m/s and 2) walking at self-selected speed. We then applied mild, moderate, and severe levels of muscle weakness or contracture to either the soleus (SOL) or gastrocnemius (GAS) or both of these major plantarflexors (PF) and retrained the model to walk at a self-selected speed. The model was robust to all deficits, finding a stable gait in all cases. Severe PF weakness caused the model to adopt a slower, "heel-walking" gait. Severe contracture of only SOL or both PF yielded similar results: the model adopted a "toe-walking" gait with excessive hip and knee flexion during stance. These results highlight how plantarflexor weakness and contracture may contribute to observed gait patterns. Our model, simulation and optimization framework, and results are freely shared so that others can reproduce and build upon our work.Author summaryDeficits in the muscles that extend the ankle are thought to contribute to abnormal walking patterns in conditions such as cerebral palsy, stroke, muscular dystrophy, and Charcot-Marie-Tooth disease. To study how deficits in these muscles contribute to abnormal walking patterns, we used computer simulations to systematically introduce muscle deficits into a biomechanically accurate model. We first showed that our model could discover realistic walking patterns over a wide range of speeds when we posed a simple objective: walking while consuming a minimum amount of energy per distance, maintaining head stability, and avoiding injury. We then used the model to study the effect of two commonly observed problems: muscle weakness and muscle tightness. We found that severe weakness of the ankle extensors caused the model to adopt a slower, “heel-walking” gait, and severe tightness caused the model to adopt a crouched, “toe-walking” gait. These results highlight how deficits in the ankle extensor muscles may contribute to abnormal walking patterns commonly seen in pathological populations.

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