• The spinal muscular atrophies (SMAs) comprise a group of autosomal-recessive disorders characterized by progressive weakness of the lower motor neurons. (medscape.com)
  • In the early 1890s, Werdnig and Hoffman described a disorder of progressive muscular weakness beginning in infancy that resulted in early death, though the age of death was variable. (medscape.com)
  • Hereditary proximal spinal muscular atrophy causes weakness and increased fatigability of repetitive motor functions. (bvsalud.org)
  • Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are rare neurodegenerative diseases, which cause progressive, proximal-to-distal muscular weakness leading to loss of ambulation and motor function. (modusoutcomes.com)
  • Soon after, Professor Johann Hoffmann from Heidelberg University presented a paper describing a syndrome of progressive atrophy, weakness, and death during the early childhood period of siblings with genetically normal parents. (medscape.com)
  • Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. (rarediseases.org)
  • spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. (bvsalud.org)
  • SMA patients present progressive symmetrical proximal weakness and hypotonia 1-4,6,8 , but there is no sensory abnormality 7 . (bvsalud.org)
  • Proximal muscle weakness is characteristic of myopathy or spinal muscular atrophy. (bmj.com)
  • Symptoms may include progressive muscle weakness, floppiness, and muscle wasting (atrophy). (togetherinsma.eu)
  • X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia). (nih.gov)
  • SMA is characterized by progressive loss of motor neurons, muscle weakness and atrophy. (medindia.net)
  • Muscle weakness in spinal muscular atrophy is caused by the loss of nerve cells that transmit signals from the brain and spinal cord to the muscles. (mysmateam.com)
  • In most types of SMA, muscle weakness affects the proximal muscles (those closest to the center of the body) and lower extremities. (mysmateam.com)
  • Muscle weakness generally worsens over time , meaning people may lose functionality as spinal muscular atrophy progresses. (mysmateam.com)
  • Problems with respiratory function can occur in spinal muscular atrophy because of weakness in the muscles that control breathing. (mysmateam.com)
  • [rx] Some physical examination findings include early-onset cataracts (younger than 50 years), varying grip myotonia, proximal muscle weakness or stiffness, hearing loss, and myofascial pain. (rxharun.com)
  • Children's with neuromuscular disorders often experience muscle pain or weakness, muscle twitching, cramping, numbness and tingling, muscle stiffness causing joint deformities and sometimes difficulty in swallowing and breathing. (stgeorgeorthopaedics.com.au)
  • Patients with inflammatory myopathies may have slow but progressive muscle weakness that begins in the proximal muscles. (stgeorgeorthopaedics.com.au)
  • in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)
  • The spinal muscular atrophies are the second most common autosomal-recessive inherited disorders after cystic fibrosis . (medscape.com)
  • Worldwide, they are the leading cause of neuromuscular disorders affecting children, which has led to an active research field to discover new DMD and SMA therapies. (modusoutcomes.com)
  • Spinal muscular atrophies (SMAs) represent a rare group of inherited disorders that cause progressive degeneration of the anterior horn cells of the spinal cord. (medscape.com)
  • In collaboration with the National Task Force for Early Identification of Childhood Neuromuscular Disorders, the CDC developed a Web-based diagnostic tool, www.childmuscleweakness.org , to assist providers in primary care, rehabilitation medicine, and physical and occupational therapy in the evaluation of children with motor delay and early manifestations of neuromuscular disorders. (medscape.com)
  • Myopathies that could present in childhood include primary muscle disorders such as congenital myopathies, collagen type VI-related congenital muscular dystrophies or muscular dystrophies such as limb girdle muscular dystrophies (LGMD). (bmj.com)
  • Neuromuscular Disorders of Infancy, Childhood and Adolescence - A Clinician's Approach. (ac.ir)
  • The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. (beds.ac.uk)
  • The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. (beds.ac.uk)
  • Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias. (beds.ac.uk)
  • We are particularly interested in ribonucleoproteins that are involved in axonal RNA transport and we study how dysfunction of such processes contributes to motoneuron disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis. (uni-wuerzburg.de)
  • Spinal muscular atrophies are among the most common forms of fatal monogenetic disorders in childhood. (uni-wuerzburg.de)
  • Neuromuscular disorders are the conditions caused by impaired neuronal activity of the nerves that control the voluntary muscle activities. (stgeorgeorthopaedics.com.au)
  • Neuromuscular disorders in children may be present at the time of birth or may be developed at later stages of life. (stgeorgeorthopaedics.com.au)
  • This degeneration most often affects the proximal musculature before it impacts the distal. (medscape.com)
  • Hirayama's disease is a rare clinical variant of amyotrophic lateral sclerosis where distal muscles are involved more compared to proximal muscles and vice-versa occurs only in 10% cases and so it is differentiated from O'Sullivan McLeod syndrome which involves only small muscles of single limb. (ac.ir)
  • Hirayama K. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease). (ac.ir)
  • Chan YW, Kay R, Schwartz MS. Juvenile distal spinal muscular atrophy of upper extremities in Chinese males: A single fibre electromyographic study of arms and legs. (ac.ir)
  • Nascimento OJ, Freitas MR. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): A clinical variant of the benign monomelic amyotrophy. (ac.ir)
  • Kikuchi S, Tashiro K. Juvenile muscular atrophy of distal upper extremity (Hirayama disease). (ac.ir)
  • Ochi H, Murai H, Osoegawa M, Minohara M, Inaba S, Kira J. Juvenile muscular atrophy of distal upper extremity associated with airway allergy: Two cases successfully treated by plasma exchange. (ac.ir)
  • Peiris JB, Seneviratne KN, Wickremasinghe HR, Gunatilake SB, Gamage R. Non familial juvenile distal spinal muscular atrophy of upper extremity. (ac.ir)
  • Some neurogenic atrophies, however, may mimic some muscular dystrophies or myopathies, such as distal myopathies. (musculoskeletalkey.com)
  • Congenital distal spinal muscular atrophy. (beds.ac.uk)
  • El tipo II caracterizado por herencia autosómica y pérdida sensitiva distal y proximal. (bvsalud.org)
  • Type II is characterized by autosomal inheritance and distal and proximal sensory loss. (bvsalud.org)
  • SMAs were first described in the 1890s, by Guido Werdnig, a physician from the University of Vienna, in his lecture "On a Case of Muscular Dystrophy with Positive Spinal Cord Findings. (medscape.com)
  • Serum creatine kinase levels may be elevated but usually not to the extent that they are elevated in persons with muscular dystrophy. (medscape.com)
  • Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
  • Muscular Dystrophy Campaign sponsored workshop: recommendation for respiratory care of children with SMA type II and III. (medscape.com)
  • The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)
  • Background: Clinical medical management guidelines of Duchenne muscular dystrophy (DMD) emphasize prevention and early identification and treatment. (iospress.com)
  • Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy. (uw.edu)
  • Wang LH, Johnstone LM, Bindschadler M, Tapscott SJ, Friedman SD Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report. (uw.edu)
  • New SPINRAZA data continue to reinforce the positive results seen in clinical studies and in my own practice," said Thomas Crawford, M.D., co-director, Muscular Dystrophy Association Clinic at Johns Hopkins Medicine. (biogen.com)
  • Myotonic dystrophy (DM) is considered a subgroup of myopathy and the most common type of muscular dystrophy that begins in adulthood. (rxharun.com)
  • There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)
  • Muscular dystrophy refers to group of hereditary diseases that weakens the muscles associated with movements. (stgeorgeorthopaedics.com.au)
  • Muscular dystrophy is caused by defective genes. (stgeorgeorthopaedics.com.au)
  • There is no specific treatment for any form of muscular dystrophy but certain medications, physical therapy and assistive devices can slow the progress of some forms of muscular dystrophy. (stgeorgeorthopaedics.com.au)
  • Muscular dystrophy can occur at infancy or childhood. (stgeorgeorthopaedics.com.au)
  • It is the most common kind of muscular dystrophy affecting only boys, between the ages of 2 to 6. (stgeorgeorthopaedics.com.au)
  • Limb girdle muscular dystrophy (LGMD) is not a single condition but a number of different inherited muscular dystrophies that are grouped under the label 'limb girdle' because they generally affect the pelvic and shoulder girdles. (treat-nmd.org)
  • What is the cause of limb-girdle muscular dystrophy? (treat-nmd.org)
  • What are the signs and symptoms of limb-girdle muscular dystrophy? (treat-nmd.org)
  • Conditions in which CK is mildly elevated or normal include spinal muscular atrophy, neuropathies, and congenital myopathies. (medscape.com)
  • OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. (figshare.com)
  • X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. (nih.gov)
  • X-linked spinal muscular atrophy-2 (SMAX2) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by Ramser et al. (nih.gov)
  • A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord , and surrounding bony structures. (lookformedical.com)
  • Wainger BJ, Macklin EA, Vucic S, et al (includes Weiss MD ). Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial. (uw.edu)
  • Various animal models for motor neuron diseases have been established to develop novel therapeutic strategies for treatment in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), the most common form of neuromuscular disease in children. (uni-wuerzburg.de)
  • The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. (iospress.com)
  • It turns out that actually eye movements are rather preserved in motor neuron diseases which is a fascinating thing because they are very strikingly involved in other forms of muscle disease and neuromuscular junction disorder but in motor neuron diseases these are spared. (serious-science.org)
  • Our research focus is on motoneuron diseases - in particular, spinal muscular atrophies. (uni-wuerzburg.de)
  • Respiratory capacity course in patients with infantile spinal muscular atrophy. (medscape.com)
  • The breadth of data presented reinforces the significant and clinically meaningful efficacy of SPINRAZA on the achievement of motor milestones and measures of motor function across a broad range of individuals with spinal muscular atrophy (SMA), as well as on survival endpoints in infantile-onset SMA. (biogen.com)
  • Additional features of X-linked infantile spinal muscular atrophy include an unusually small chin (micrognathia), abnormal curvature of the spine (scoliosis or kyphosis), and undescended testes (cryptorchidism). (nih.gov)
  • Spinal muscular atrophy (SMA) is a neurodegenerative disease produced by low levels of Survival Motor Neuron (SMN) protein that affects alpha motoneurons in the spinal cord. (mdpi.com)
  • The disease affects mainly proximal muscles including intercostal muscles (chest muscles), and patients often die due to respiratory complications. (medindia.net)
  • A neuromuscular disease is a disorder that affects the muscles and its nervous control. (stgeorgeorthopaedics.com.au)
  • Motor neurons are amongst the largest cells in the body: typically they have a diameter of 20 or 30 microns, and in the case of motor neurons in your spinal cord which innervate the muscles in your foot, maybe up to a meter long. (serious-science.org)
  • These muscles are often called the 'proximal' muscles because they are nearest to the body. (treat-nmd.org)
  • Astellas Pharma announced that the FDA has granted fast track status for the development of ASP0367 for treating primary mitochondrial myopathies (PMM), which causes reduced muscle function, fatigue, and muscle atrophy. (modusoutcomes.com)
  • 2 In addition, the varied clinical presentations of MND also include (i) progressive muscle atrophy (PMA, ~ 10% of MND cases), a clinically pure lower motor neuron (LMN) phenotype, (ii) primary lateral sclerosis (PLS, 1-3% of MND cases), a clinically pure upper motor neuron (UMN) phenotype and (iii) progressive bulbar palsy (PBP, 1-2% of MND cases), an isolated bulbar phenotype with relative preservation of spinal motor neurons. (acnr.co.uk)
  • I have been working on that for more than 20 years, and spinal muscular atrophy is a predominantly childhood disorder in which only lower motor neurons, those motion neurons that are in the spinal cord, are affected. (serious-science.org)
  • Both physicians conducted autopsies on their patients and found severe atrophy of the ventral roots of the spinal cord. (medscape.com)
  • the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. (beds.ac.uk)
  • Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. (beds.ac.uk)
  • Although there is no documented, objective evidence that symptomatic post-polio subjects are rapidly losing strength, they have a number of neuromuscular deficits related to a more severe poliomyelitis illness that may explain why they complain of problems with strength, endurance, and local muscle fatigue. (polioaustralia.org.au)
  • Scoliosis in spinal muscular atrophy: review of 63 cases. (medscape.com)
  • Since then, several types of spinal muscular atrophies have been described based on age when accompanying clinical features appear. (medscape.com)
  • Hirayama K, Toyokura Y, Tsubaki T. Juvenile muscular atrophy of unilateral upper extremity: A new clinical entity. (ac.ir)
  • Athetoid or dyskinetic CP is defined by slow, writhing, involuntary movements of the proximal extremities and trunk (athetoid movements), often activated by attempts at voluntary movement or by excitement. (msdmanuals.com)
  • The mortality and/or morbidity rates of spinal muscular atrophy are inversely correlated with the age at onset. (medscape.com)
  • Male individuals are most frequently affected, especially with the early-onset forms of spinal muscular atrophy, ie, types I and II. (medscape.com)
  • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. (medscape.com)
  • CAMBRIDGE, Mass. & CARLSBAD, Calif.--(BUSINESS WIRE) --Biogen (NASDAQ:BIIB) and Ionis Pharmaceuticals (NASDAQ:IONS) announced that SPINRAZATM (nusinersen), an investigational treatment for spinal muscular atrophy (SMA), met the primary endpoint at the interim analysis of CHERISH, the Phase 3 study evaluating SPINRAZA in later-onset (consistent with Type 2) SMA. (mda.org)
  • A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. (medscape.com)
  • Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): End of study results from the phase 3 CHERISH. (biogen.com)
  • Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. (beds.ac.uk)
  • Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. (medscape.com)
  • The results of a preclinical study demonstrates that treatment with orally available RNA splicing modifiers of the SMN2 gene starting early after birth is preventing deficits in a mouse model of Spinal Muscular Atrophy (SMA). (medindia.net)
  • The SMN2 splicing modifiers described in the Science article penetrated into all mouse tissues tested, including brain, spinal cord and muscle, and thus improved SMN2 RNA splicing to increase SMN protein production in these disease-relevant tissues. (medindia.net)
  • Upper limb proximal form of benign monomelic amyotrophy: On purpose of 2 cases. (ac.ir)
  • So in the ventral horn of your spinal cord the cell body is there, the motor neuron, its axon goes out into the limb, the neuromuscular junctions that arise from that and the individual muscle fibres are the motor unit. (serious-science.org)
  • Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months. (medscape.com)
  • Proximal muscle histopathology did not always show classic neurogenic features. (figshare.com)
  • Efficacy and safety of nusinersen in genetically diagnosed infants with presymptomatic spinal muscular atrophy (SMA): Results from the second interim analysis of the ongoing, phase 2 NURTURE study. (biogen.com)
  • The purpose of this study was to determine if there were any differences between symptomatic and asymptomatic polio survivors by history of acute poliomyelitis illness, electromyographic evidence of terminal motor unit reorganization, and neuromuscular function of the quadriceps femoris muscle. (polioaustralia.org.au)
  • BACKGROUND: Progressive lung function decline, resulting in respiratory failure, is an important complication of spinal muscular atrophy (SMA). (bvsalud.org)
  • SMA children suffer from stunted development due to nutritional, muscular, postural and respiratory alterations. (bvsalud.org)
  • In both forms - proximal spinal muscular atrophy (SMA) and spinal muscular atrophy with respiratory distress (SMARD1) - dysregulated RNA processing mechanisms, affected ion channels and altered growth factor signaling seem to play a crucial role causing motoneuron degeneration. (uni-wuerzburg.de)
  • Hoffmann called the syndrome spinale muskelatrophie (spinal muscular atrophy). (medscape.com)
  • Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment. (cdc.gov)
  • In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. (medscape.com)
  • Although an elevated CK level warrants prompt referral to a neurologist, a normal level does not rule out neuromuscular disease, and a mildly elevated CK (1-2 times normal) also requires follow-up. (medscape.com)
  • Spinal muscular atrophy (SMA) is a recessive, autosomal neuromuscular disease characterized by degeneration of anterior horn spinal cord motor cells and brain stem neurons 1-5 . (bvsalud.org)
  • There was no family history of neuromuscular disease or consanguinity. (bmj.com)
  • SMA is a rare, genetic neuromuscular disease 1,2 and a leading genetic cause of infant and toddler mortality. (togetherinsma.eu)
  • Scientists from Roche Pharma Research and Early Development (pRED), PTC Therapeutics, Inc., the SMA Foundation, the University of Southern California and Harvard University collaborated to demonstrate that continuous treatment of SMA mice with these compounds increased life span, normalized body weight and prevented both disease-related motor dysfunction and neuromuscular deficits. (medindia.net)
  • METHODS Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1. (figshare.com)
  • Neuromuscular functional electrical stimulation represents a valid technique for functional rehabilitation or, in the form of a neuroprosthesis, for the assistance of neurological patients. (researchgate.net)
  • The main focus here is the analysis of the basic mechanisms of the inhibitory signal pathways in the adult spinal cord and brain stem with the involvement of the glycinergic system. (uni-wuerzburg.de)