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Spinal Muscle Atrophy

Akira Ikumi, Shigeki Kubota, Yukiyo Shimizu, Hideki Kadone, Aiki Marushima, Tomoyuki Ueno, Hiroaki Kawamoto, Yasushi Hada, Akira Matsumura, Yoshiyuki Sankai, Masashi Yamazaki
CONTEXT: Recently, locomotor training with robotic assistance has been found effective in treating spinal cord injury (SCI). Our case report examined locomotor training using the robotic suit hybrid assistive limb (HAL) in a patient with complete C4 quadriplegia due to chronic SCI. This is the first report examining HAL in complete C4 quadriplegia. FINDINGS: The patient was a 19-year-old man who dislocated C3/4 during judo 4 years previously. Following the injury, he underwent C3/4 posterior spinal fusion but remained paralyzed despite rehabilitation...
October 20, 2016: Journal of Spinal Cord Medicine
Eun Ji Ahn, Mi Sun Yum, Eun Hee Kim, Han Wook Yoo, Beom Hee Lee, Gu Hwan Kim, Tae Sung Ko
BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gene is considered a phenotype modifier. We investigated the genotype-phenotype correlation of SMN1 and NAIP deletions in Korean SMA patients. METHODS: Thirty-three patients (12 males and 21 females) treated at the Asan Medical Center between 1999 and 2013 were analyzed retrospectively...
October 7, 2016: Journal of Clinical Neurology
Alfred C Gellhorn, Pradeep Suri, Sean Rundell, Nathan Olafsen, M Jake Carlson, Steve Johnson, Adrielle Fry, Thiru Anaswammy, Christopher Gilligan, Bryan Comstock, Patrick Heagerty, Janna Friedly, Jeffrey G Jarvik
BACKGROUND: Minimal longitudinal data exist regarding the role of lumbar musculature in predicting back pain and function. In cross sectional study designs, there is often atrophy of the segmental multifidus muscle in subjects with low back pain compared with matched controls. However, the cross sectional design of these studies prevents drawing conclusions regarding whether lumbar muscle characteristics predict or modify future back pain or function. OBJECTIVE: The primary objective is to determine if the cross sectional area (CSA) of lumbar muscles predicts functional status or back pain at 6- or 12-month follow-up in older adults with spinal degeneration...
October 6, 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Valerio Vitale, Ferdinando Caranci, Chiara Pisciotta, Fiore Manganelli, Francesco Briganti, Lucio Santoro, Arturo Brunetti
BACKGROUND: Hirayama's disease (HD), is a benign, self-limited, motor neuron disease, characterized by asymmetric weakness and atrophy of one or both distal upper extremities. In the present study we report the clinical, electrophysiological and MRI features of a group of Italian patients, with review of the literature. Moreover we propose an optimized MRI protocol for patients with suspected or diagnosed HD in order to make an early diagnosis and a standardized follow up. METHODS: Eight patients with clinical suspicion of Hirayama disease underwent evaluation between January 2007 and November 2013...
August 2016: Quantitative Imaging in Medicine and Surgery
Naoki Sasaki, Yui Imamura, Akio Sekiya, Megumi Itoh, Hidefumi Furuoka
In this study, fasciculation of the limbs and tongue was observed in four horses kept by a riding club. Neurogenic muscle atrophy was also observed in biopsy of pathological tissues. In addition, in two cases that subjected to autopsy, Bunina-like bodies of inclusion in the cell bodies of neurons in the spinal cord ventral horn were confirmed, leading to a diagnosis of equine motor neuron disease (EMND). Serum vitamin E concentrations varied between 0.3 and 0.4µg/ml, which is significantly lower than the levels in normal horses...
2016: Journal of Equine Science
Victoria Goeckmann, Sophie Rothammer, Ivica Medugorac
Bovine spastic paresis (BSP) is a sporadic, progressive neuromuscular disease that is thought to affect all breeds of cattle. The disease manifests as a unilateral or bilateral hyperextension of the hind limb due to increased muscle tone or permanent spasm of mainly the gastrocnemius and/or the quadriceps muscle. Clinical signs only appear in rising, standing and moving animals, which is an important diagnostic feature. Although several medical treatments have been described, surgical procedures such as neurectomy or tenectomy are generally indicated...
October 2016: Veterinary Journal
Daniel L Belavý, Ulf Gast, Dieter Felsenberg
PURPOSE: To investigate atrophy in the deep abdominal muscles, spinal extensors and the impact of high-load resistive exercise with and without whole body vibration following 60d of strict bed-rest. METHODS: 24 subjects underwent 60-days of head-down tilt bed-rest and performed either resistive vibration exercise (RVE), resistive exercise only (RE) or no exercise control (2nd Berlin BedRest Study). The thickness of the transversus abdominis, internal oblique and erector spinae muscles and area of the multifidus muscle were measured bilaterally via real-time ultrasound...
September 28, 2016: Medicine and Science in Sports and Exercise
Wen-Bin Xu, Jun-Hui Liu, Zhi-Jun Chen, Xiang-Qian Fang, Shun-Wu Fan, Zhi-Jun Hu
STUDY DESIGN: Experimental study evaluated magnetic resonance imaging (MRI) and histologic changes in the multifidus muscle after anterior spinal fusion. OBJECTIVE: To determine the effect of spinal fusion on the multifidus muscle in an anterior rabbit model through the use of MRI and histologic evaluation. SUMMARY OF BACKGROUND DATA: Retraction and splitting approach are known to be important factors in postoperative injury and atrophy of the multifidus muscle...
September 28, 2016: Spine
Elisa Giorgetti, Zhigang Yu, Jason P Chua, Ryosuke Shimamura, Lili Zhao, Fan Zhu, Sriram Venneti, Maria Pennuto, Yuanfang Guan, Gene Hung, Andrew P Lieberman
Spinal and bulbar muscular atrophy (SBMA), a progressive degenerative disorder, is caused by a CAG/glutamine expansion in the androgen receptor (polyQ AR). Recent studies demonstrate that skeletal muscle is an important site of toxicity that contributes to the SBMA phenotype. Here, we sought to identify critical pathways altered in muscle that underlie disease manifestations in AR113Q mice. This led to the unanticipated identification of gene expression changes affecting regulators of carbohydrate metabolism, similar to those triggered by denervation...
September 27, 2016: Cell Reports
Chengzu Long, Leonela Amoasii, Rhonda Bassel-Duby, Eric N Olson
Importance: Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction abnormalities. To date, more than 780 monogenic neuromuscular diseases, linked to 417 different genes, have been identified in humans. Genome-editing methods, especially the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 (CRISPR-associated protein 9) system, hold clinical potential for curing many monogenic disorders, including neuromuscular diseases such as Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1...
September 26, 2016: JAMA Neurology
Nicole Armbruster, Annalisa Lattanzi, Matthieu Jeavons, Laetitia Van Wittenberghe, Bernard Gjata, Thibaut Marais, Samia Martin, Alban Vignaud, Thomas Voit, Fulvio Mavilio, Martine Barkats, Ana Buj-Bello
Spinal muscular atrophy (SMA) is an autosomal recessive disease of variable severity caused by mutations in the SMN1 gene. Deficiency of the ubiquitous SMN function results in spinal cord α-motor neuron degeneration and proximal muscle weakness. Gene replacement therapy with recombinant adeno-associated viral (AAV) vectors showed therapeutic efficacy in several animal models of SMA. Here, we report a study aimed at analyzing the efficacy and biodistribution of a serotype-9, self-complementary AAV vector expressing a codon-optimized human SMN1 coding sequence (coSMN1) under the control of the constitutive phosphoglycerate kinase (PGK) promoter in neonatal SMNΔ7 mice, a severe animal model of the disease...
2016: Molecular Therapy. Methods & Clinical Development
Md Abu Bakar Siddiq, Md Shawkat Hossain, Mohammad Moin Uddin, Israt Jahan, Moshiur Rahman Khasru, Neaz Mahmud Haider, Johannes J Rasker
AIMS: To describe a series of piriformis syndrome patient among Bangladesh people with literature review. METHODS: Consecutive 31 piriformis syndrome patients were enrolled. Besides history and clinical examination, piriformis muscle thickness was also measured with diagnostic ultrasound (3.5 MHZ). MRI of lumbar spine, X-rays of lumbo-sacral spine, and pelvis were performed in all patients. Statistical Package for the Social Sciences (SPSS), Windows 8.0, was used for statistical calculation, and univariate analysis of primary data was done...
September 19, 2016: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
Awder A Khazendar, Hemin M Hama Ameen, Nzar I Jabbar, Seerwan O Hasan, Talar S Ahmed, Alaa A Ali
BACKGROUND: Intradural extramedullary spinal teratoma (IEST) is a rare condition in adult patients with male predominance. It is commonly associated with spinal dysraphism, lumbar puncture and prior spinal surgeries. The study presents a 37-year-old male diagnosed with upper lumbar intradural extramedullary mature cystic teratoma without dysraphism or prior surgical interventions. CASE DESCRIPTION: Patient's symptoms included a lumbar backache which progressed to the toes, as well as the anterior region of both the thighs...
September 15, 2016: World Neurosurgery
Sara Oliván, Ana C Calvo, Amaya Rando, Mireia Herrando-Grabulosa, Raquel Manzano, Pilar Zaragoza, Eduardo F Tizzano, Jose Aquilera, Rosario Osta
Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons. SMA is associated with reduced levels of full-length Survival of Motor Neuron (SMN) protein, due to mutations in the Survival of Motor Neuron 1 gene. Nowadays there are no effective therapies available to treat patients with SMA, so our aim was to test whether the non-toxic carboxy-terminal fragment of tetanus toxin heavy chain (TTC), which exhibits neurotrophic properties, might have a therapeutic role or benefit in SMA...
2016: Frontiers in Molecular Neuroscience
Jeremy M Shefner
Loss of muscle strength is a cardinal feature of all motor neuron diseases. Functional loss over time, including respiratory dysfunction, inability to ambulate, loss of ability to perform activities of daily living, and others are due, in large part, to decline in strength. Thus, the accurate measurement of limb muscle strength is essential in therapeutic trials to best understand the impact of therapy on vital function. While qualitative strength measurements show declines over time, the lack of reproducibility and linearity of measurement make qualitative techniques inadequate...
September 6, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Robert D Henderson, Pamela A McCombe
The motor unit comprises the anterior horn cell, its axon, and the muscle fibers that it innervates. Although the true number of motor units is unknown, the number of motor units appears to vary greatly between different muscles and between different individuals. Assessment of the number and function of motor units is needed in diseases of the anterior horn cell and other motor nerve disorders. Amyotrophic lateral sclerosis is the most important disease of anterior horn cells. The need for an effective biomarker for assessing disease progression and for use in clinical trials in amyotrophic lateral sclerosis has stimulated the study of methods to measure the number of motor units...
September 6, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Jayme Augusto Bertelli, Marcos Flávio Ghizoni
PURPOSE: With spinal cord injuries, muscles below the level of the lesion remain innervated despite the absence of volitional control. This persistent innervation protects against denervation atrophy and may allow for nerve transfers to treat long-standing lesions within the spinal cord. We tested the hypothesis that in chronic spinal cord lesions, muscles remained viable for reinnervation. METHODS: To test this hypothesis, we operated on 7 patients with tetraplegia to reconstruct thumb and finger extension after a mean interval of 5 years since injury...
September 1, 2016: Journal of Hand Surgery
Ugo Carraro, Helmut Kern, Paolo Gava, Christian Hofer, Stefan Loefler, Paolo Gargiulo, Kyle Edmunds, Íris Dröfn Árnadóttir, Sandra Zampieri, Barbara Ravara, Francesco Gava, Alessandra Nori, Valerio Gobbo, Stefano Masiero, Andrea Marcante, Alfonc Baba, Francesco Piccione, Sheila Schils, Amber Pond, Simone Mosole
Many factors contribute to the decline of skeletal muscle that occurs as we age. This is a reality that we may combat, but not prevent because it is written into our genome. The series of records from World Master Athletes reveals that skeletal muscle power begins to decline at the age of 30 years and continues, almost linearly, to zero at the age of 110 years. Here we discuss evidence that denervation contributes to the atrophy and slowness of aged muscle. We compared muscle from lifelong active seniors to that of sedentary elderly people and found that the sportsmen have more muscle bulk and slow fiber type groupings, providing evidence that physical activity maintains slow motoneurons which reinnervate muscle fibers...
September 3, 2016: Aging Clinical and Experimental Research
Rocío Tejero, Mario Lopez-Manzaneda, Saravanan Arumugam, Lucía Tabares
Spinal muscular atrophy (SMA) is the most frequent genetic cause of infant mortality. The disease is characterized by progressive muscle weakness and paralysis of axial and proximal limb muscles. It is caused by homozygous loss or mutation of the SMN1 gene, which codes for the Survival Motor Neuron (SMN) protein. In mouse models of the disease, neurotransmitter release is greatly impaired, but the molecular mechanisms of the synaptic dysfunction and the basis of the selective muscle vulnerability are unknown...
August 29, 2016: Human Molecular Genetics
Inês do Carmo G Golçalves, Wiebke A Rehorst, Min Jeong Kye
Recent findings indicate an important role for RNA-mediated gene expression in motor neuron diseases, including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). ALS, also known as Lou Gehrig's disease, is an adult-onset progressive neurodegenerative disorder, whereby SMA or "children's Lou Gehrig's disease" is considered a pediatric neurodevelopmental disorder. Despite the differences in genetic causes, both ALS and SMA share common phenotypes; dysfunction/loss of motor neurons that eventually leads to muscle weakness and atrophy...
August 15, 2016: CNS & Neurological Disorders Drug Targets
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