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Spinal Muscle Atrophy

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https://www.readbyqxmd.com/read/29326874/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#1
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29313812/pathogenic-commonalities-between-spinal-muscular-atrophy-and-amyotrophic-lateral-sclerosis-converging-roads-to-therapeutic-development
#2
REVIEW
Melissa Bowerman, Lyndsay M Murrray, Frédérique Scamps, Bernard L Schneider, Rashmi Kothary, Cédric Raoul
Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene whilst ALS, albeit being mostly sporadic, can also be caused by mutations within genes, including superoxide dismutase 1 (SOD1), Fused in Sarcoma (FUS), TAR DNA-binding protein 43 (TDP-43) and chromosome 9 open reading frame 72 (C9ORF72)...
December 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#3
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29279867/in-vivo-genome-editing-improves-motor-function-and-extends-survival-in-a-mouse-model-of-als
#4
Thomas Gaj, David S Ojala, Freja K Ekman, Leah C Byrne, Prajit Limsirichai, David V Schaffer
Amyotrophic lateral sclerosis (ALS) is a fatal and incurable neurodegenerative disease characterized by the progressive loss of motor neurons in the spinal cord and brain. In particular, autosomal dominant mutations in the superoxide dismutase 1 (SOD1) gene are responsible for ~20% of all familial ALS cases. The clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated (Cas9) genome editing system holds the potential to treat autosomal dominant disorders by facilitating the introduction of frameshift-induced mutations that can disable mutant gene function...
December 2017: Science Advances
https://www.readbyqxmd.com/read/29273277/novel-bicd2-mutation-in-a-japanese-family-with-autosomal-dominant-lower-extremity-predominant-spinal-muscular-atrophy-2
#5
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosaki
INTRODUCTION: The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant lower extremity-predominant SMA type 2. PATIENTS: The proband was the father, aged 30, and the son was aged 3...
December 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29259166/inhibition-of-autophagy-delays-motoneuron-degeneration-and-extends-lifespan-in-a-mouse-model-of-spinal-muscular-atrophy
#6
Antonio Piras, Lorenzo Schiaffino, Marina Boido, Valeria Valsecchi, Michela Guglielmotto, Elena De Amicis, Julien Puyal, Ana Garcera, Elena Tamagno, Rosa M Soler, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (SMN1). SMA is characterized by motor impairment, muscle atrophy, and premature death following motor neuron (MN) degeneration. Emerging evidence suggests that dysregulation of autophagy contributes to MN degeneration. We here investigated the role of autophagy in the SMNdelta7 mouse model of SMA II (intermediate form of the disease) which leads to motor impairment by postnatal day 5 (P5) and to death by P13...
December 20, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29236822/the-relative-frequency-of-common-neuromuscular-diagnoses-in-a-reference-center
#7
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. OBJECTIVE: To report the relative frequency of common neuromuscular diagnoses in a reference center. METHODS: A 17-year chart review of patients with suspicion of myopathy. RESULTS: Among 3,412 examinations, 1,603 (46...
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29220503/downregulation-of-survivin-contributes-to-cell-cycle-arrest-during-postnatal-cardiac-development-in-a-severe-spinal-muscular-atrophy-mouse-model
#8
Lei Sheng, Bo Wan, Pengchao Feng, Junjie Sun, Frank Rigo, C Frank Bennett, Martin Akerman, Adrian R Krainer, Yimin Hua
Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive degeneration of spinal-cord motor neurons, leading to atrophy of skeletal muscles. However, accumulating evidence indicates that it is a multi-system disorder, particularly in its severe forms. Several studies delineated structural and functional cardiac abnormalities in SMA patients and mouse models, yet the abnormalities have been primarily attributed to autonomic dysfunction. Here, we show in a severe mouse model that its cardiomyocytes undergo G0/G1 cell-cycle arrest and enhanced apoptosis during postnatal development...
December 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29215088/charcot-marie-tooth-disease-type-2a-with-an-autosomal-recessive-inheritance-the-first-report-of-an-adult-onset-disease
#9
Ryota Hikiami, Hirofumi Yamashita, Natsuko Koita, Naoto Jingami, Nobukatsu Sawamoto, Kaoru Furukawa, Hiromichi Kawai, Tomoya Terashima, Nobuyuki Oka, Akihiro Hashiguchi, Hiroshi Takashima, Makoto Urushitani, Ryosuke Takahashi
Axonal Charcot-Marie-Tooth disease (CMT) is most frequently caused by mutations in the MFN2 gene (CMT2A) that can lead to various clinical phenotypes. The age at disease onset varies, but most cases occur before adolescence. We report two Japanese sisters who presented with middle-age-onset peripheral neuropathy with distinct clinical features. In the affected sisters, a homozygous missense mutation, c.1894C>T, p.R632W, corresponding to the transmembrane domain of MFN2 was identified; this mutation was heterozygous in another non-affected sibling, demonstrating co-segregation of the genotype and phenotype...
November 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29208343/single-center-experience-with-intrathecal-administration-of-nusinersen-in-children-with-spinal-muscular-atrophy-type-1
#10
Astrid Pechmann, Thorsten Langer, Sabine Wider, Janbernd Kirschner
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder mainly characterized by proximal muscle weakness. There have been enormous advances in therapeutic development with the possibility to influence the clinical course of the disease. Nusinersen is the first approved drug to treat SMA. It is administered intrathecally and acts as splicing modifier of the SMN2 gene. METHODS: Lumbar punctures were performed using a standardized protocol. To evaluate safety and feasibility of the intrathecal treatment, vital signs and the need for sedation, analgesia or mechanical ventilation during the procedure were monitored...
November 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#11
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
November 28, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29189555/what-is-in-the-literature
#12
Mark B Bromberg
This edition of "What is in the Literature?" will focus on motor neuron disease (MND), including adult forms [amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), progressive bulbar palsy (PBA), and monomelic mononeuropathy (MMND)], and childhood forms [spinal muscle atrophy (SMA)].
December 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/29172006/two-cases-of-spinal-muscular-atrophy-type-ii-with-eosinophilic-oesophagitis
#13
Heidi R Fuller, Hannah K Shorrock, Thomas H Gillingwater, Anna Pigott, Victoria Smith, Richa Kulshrestha, Caroline S Sewry, Tracey A Willis
Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29169047/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy-linked-to-mutations-in-asah1
#14
Edibe Pembegül Yildiz, Gözde Yesil, Gonca Bektas, Mine Caliskan, Burak Tatlı, Nur Aydinli, Meral Ozmen
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease. We report a case of a 13.5-year-old girl with SMA-PME associated with ASAH1 gene mutation. She presented with progressive muscle weakness, tremor, seizure, and cognitive impairment...
November 20, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29163212/regulation-of-skeletal-muscle-plasticity-by-protein-arginine-methyltransferases-and-their-potential-roles-in-neuromuscular-disorders
#15
REVIEW
Derek W Stouth, Tiffany L vanLieshout, Nicole Y Shen, Vladimir Ljubicic
Protein arginine methyltransferases (PRMTs) are a family of enzymes that catalyze the methylation of arginine residues on target proteins, thereby mediating a diverse set of intracellular functions that are indispensable for survival. Indeed, full-body knockouts of specific PRMTs are lethal and PRMT dysregulation has been implicated in the most prevalent chronic disorders, such as cancers and cardiovascular disease (CVD). PRMTs are now emerging as important mediators of skeletal muscle phenotype and plasticity...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29159074/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#16
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29142792/spinal-muscular-atrophy-the-treatment-approved
#17
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required...
September 2, 2017: Curēus
https://www.readbyqxmd.com/read/29132389/advances-challenges-and-future-directions-for-stem-cell-therapy-in-amyotrophic-lateral-sclerosis
#18
REVIEW
Yuri Ciervo, Ke Ning, Xu Jun, Pamela J Shaw, Richard J Mead
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative condition where loss of motor neurons within the brain and spinal cord leads to muscle atrophy, weakness, paralysis and ultimately death within 3-5 years from onset of symptoms. The specific molecular mechanisms underlying the disease pathology are not fully understood and neuroprotective treatment options are minimally effective. In recent years, stem cell transplantation as a new therapy for ALS patients has been extensively investigated, becoming an intense and debated field of study...
November 13, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29132243/protective-effects-of-estradiol-and-dihydrotestosterone-following-spinal-cord-injury
#19
Dale R Sengelaub, Qi Han, Nai-Kui Liu, Melissa Maczuga, Violetta Szalavari, Stephanie Valencia, Xiao-Ming Xu
Spinal cord injury (SCI) results in lesions that destroy tissue and disrupt spinal tracts, producing deficits in locomotor and autonomic function. We previously demonstrated that motoneurons, and the muscles they innervate, show pronounced atrophy after SCI, and these changes are prevented by treatment with testosterone. Here we assessed if the testosterone active metabolites, estradiol and dihydrotestosterone, have similar protective effects after SCI. Young adult female rats received either sham or T9 spinal cord contusion injuries and were treated with estradiol, dihydrotestosterone, both, or nothing via Silastic capsules...
November 13, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29099679/photobiomodulation-in-neuroscience-a-summary-of-personal-experience
#20
Shimon Rochkind
OBJECTIVE: This review summarizes personal experience with laser photobiomodulation and its potentials for the treatment of peripheral and central nerve system injuries. METHODS AND RESULTS: Laser photobiomodulation was shown to induce nerve cell activation, have a positive effect on metabolism of the nerve cells, and to stimulate nerve sprouting processes. Studies investigating the effects of laser photobiomodulation on injured peripheral nerves in rats reported immediate protective effects which increase the functional activity of the nerve, decrease or prevent scar tissue formation at the injured site, prevent or decrease degeneration in corresponding motor neurons of the spinal cord, and significantly increase axonal growth and myelinization...
November 2017: Photomedicine and Laser Surgery
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