41. GeneReviews: Spinal Muscular Atrophy Your browser does not support HTML frames so you must view spinal muscular atrophy in a slightly less readable form. Please follow this link to do so. http://www.genetests.org/query?dz=sma

42. Elizabeth's Page! Elizabeth has spinal muscular atrophy Type 1. She is in a clinical study at Stanford for SMA type. She has beat the odds. Read about her journey through life. http://www.our-sma-angels.com/elizabeth/

Elizabeth's Site! I was diagnosed with SMA (Spinal Muscular Atrophy) on 5-11-2004. I have Type 1. Spinal Muscular Atrophy is the #1 genetic killer of children under age two. It is a group of inherited and sometimes fatal diseases that destroys the nerves controlling voluntary movement. This affects crawling, walking, head and neck control, and even swallowing. One in 6,000 babies is afflicted with SMA, and 50% of those diagnosed before age 2 will die before their first birthday. One in 40 people are carriers of the SMA gene. SMA can strike anyone of any age or ethnicity. I am going to California to Stanford University with my Mommy and my grandmother Jeanna to see if they can help cure me and other babies like me. Dr. Ching Wang has done research on SMA and is so close to a cure. I am going to help Dr. Ching Wang get FDA approval for his therapy to fight this deadly disease. I am a smart, beautiful baby and I am special because I am going to help fight SMA by helping with the clinical trials, to save babies like me. I think I was sent here from God to special people who will care for me, love me, and fight to cure me.

43. Spinal Muscular Atrophy, The Alfred I. DuPont Institute Pediatric neurologist diagnosed spinal muscular atrophy after reviewing the muscle Biopsy. Spine arthrodesis in patients with spinal muscular atrophy. http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/smaab.htm

SPINAL MUSCULAR ATROPHY DAVID J. ABRAHAM, M.D. Resident, Orthopaedic Surgery J. RICHARD BOWEN, M.D. Chief Department of Orthopaedic Surgery ALFRED I. DUPONT INSTITUTE April 16, 1996 CASE HISTORY: Kg is a 6+6 year old white female evaluated in the orthopaedic clinic for progressive scoliosis, bilateral hip dislocations and diffuse hypotonia with inability to walk. Past medical history significant for recurrent upper respiratory infections occasionally requiring hospitalization. Developmental History: 8 pound 6 ounce, full term female with no perinatal events and normal intrauterine movement was developing normally until 6 months of age when parents noticed she stopped moving her legs and lost the ability to roll over. Pediatric neurologist diagnosed Spinal Muscular Atrophy after reviewing the muscle Biopsy. Managed with physical therapy and inpatient rehabilitation consisting of intensive physical, occupational and aquatic therapy and the use of long leg braces at age of 2. Radiographic evaluation at age of 3 showed mild scoliosis and bilateral dislocated hips.

44. Emily's Walk For Life Information about an annual walk to raise money to find a cure for spinal muscular atrophy. Learn about SMA and read Emily's story. http://www.emilyswalkforlife.com

Emily's Walk 2005 Emily's Walk for Life The 5th annual Emily's Walk for Life! ~Walk for SMA~ September 11, 2005 Trexlertown, PA

45. Spinal Muscular Atrophy a CHORUS notecard document about spinal muscular atrophy. http://chorus.rad.mcw.edu/doc/02038.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system About CHORUS Search Feedback spinal muscular atrophy 2nd most common autosomal recessive disease in Caucasians pathology degeneration of the spinal anterior horn cells atrophy and wasting of skeletal muscles types SMA I = Werdnig-Hoffman disease: rapidly progressive SMA II = intermediate form SMA III = Kugelberg-Welander disease: slowly progressive uncommon adult forms usual presentations floppy baby arthrogryposis muscle weakness in infancy diagnosis weakness and wasting with areflexia electrophysiology shows anterior horm cell disease genetics linked to chromosome 5q. neuronal apoptosis inhibitory protein (NAIP) gene survival motor neuron (SMN) gene James Lowe, DM BM BS MRCPath - 13 November 1997 Last updated 26 May 2004 Related CHORUS documents: fibrous dysplasia cervical spine fusion (ankylosis) hemangioma of bone acute spinal cord compression ... acromegaly Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

46. Spinal Muscular Atrophy (SMA): The Sean W. Venezia Foundation: Funding The Fight Dedicated to fighting spinal muscular atrophy by helping fund research for treatment and a cure, and providing support to families affected by SMA Type I. http://www.smafund.org

Sean's Story Our Mission ... Us The Sean W. Venezia Foundation is a non-profit, all-volunteer, 501(c) (3) organization. Helping Fund the Fight Against Spinal Muscular Atrophy The #1 Genetic Killer of Children Under the Age of 2 Spinal Muscular Atrophy, commonly referred to as SMA, is an inherited disease that destroys the spinal cord nerves that control muscle movement, which affects crawling, walking, head and neck control, and even breathing and swallowing. Although SMA is as common as ALS (Lou Gehrig's Disease), it is not nearly as well-known because many of its victims die so young. Currently, there is no treatment or cure for SMA. However, its cause is well understood and the "problem" gene has been identified. As a result, a cure could be on the horizon, but money is still needed to fund research and to help families that are currently impacted by this tragic disorder. FREE "CURE SMA" Bracelet

47. Spinal Muscular Atrophy Information Page: National Institute Of Neurological Dis spinal muscular atrophy (SMA) information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/sma/sma.htm

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Spinal Muscular Atrophy Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Spinal Muscular Atrophy NINDS Spinal Muscular Atrophy Information Page Synonym(s): Werdnig-Hoffman Disease, Kugelberg-Welander Disease Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Spinal Muscular Atrophy? Is there any treatment? What is the prognosis? What research is being done? ... Additional resources from MEDLINEplus What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a genetic, motor neuron disease caused by progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of the voluntary muscles. Weakness is often more severe in the legs than in the arms. The childhood SMAs are all autosomal recessive diseases. This means that they run in families and more than one case is likely to occur in siblings or cousins of the same generation. Parents usually have no symptoms, but still carry the gene. The gene for SMA has been identified and accurate diagnostic tests exist. There are many types of SMA; some of the more common types are described below.

48. Spinal Muscular Atrophy Detailed information on spinal muscular atrophy, including causes, symptoms, diagnosis, and treatment. http://www.healthsystem.virginia.edu/uvahealth/peds_neuro/sma.cfm

[ Skip Navigation ] Health System Home For Health Answers Healthcare Professionals ... Advanced Search Health System Search Search for Information People UVa Home Health System News Health System Events (all) Health System Publications ... Making a Gift Topics Adolescent Medicine Allergy/Asthma/Immunology Blood Disorders Burns Cancer Common Injuries/Poison Tips Craniofacial Anomalies Dermatology Diabetes/Endo/Metabolism Eye Care Genitourinary/Kidney High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Mental Health Nervous System Disorders Normal Newborns Oral Health Orthopaedics Pediatric Surgery Respiratory Disorders Terminal Illness in Children Transplantation UVa Health Topics A to Z FIND A DOCTOR Medical Genetics Pediatric Endocrinology Pediatric Epilepsy ... CLINICAL TRIALS Search This Site Spinal Muscular Atrophy What is spinal muscular atrophy (SMA)? Spinal muscular atrophy is a rare degenerative problem that affects the spinal cord and nerves, resulting in muscle wasting and weakness. What causes spinal muscular atrophy? SMA is an autosomal recessive disease. This means that both males and females are equally affected, and that two copies of the gene, one inherited from each parent, are necessary to have the condition.

49. Introduction: Spinal Muscular Atrophy - WrongDiagnosis.com Introduction to spinal muscular atrophy as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/s/spinal_muscular_atrophy/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Spinal Muscular Atrophy Next sections Basic Summary for Spinal Muscular Atrophy Prevalence and Incidence of Spinal Muscular Atrophy Prognosis of Spinal Muscular Atrophy Types of Spinal Muscular Atrophy ... Prevalence of Types of Spinal Muscular Atrophy Next chapters: Spinal Muscular Atrophy type I Spinal Muscular Atrophy type II Spinal Muscular Atrophy type III Fasciculations ... Feedback Introduction: Spinal Muscular Atrophy Spinal Muscular Atrophy: Genetic motor neuron disease with progressive muscle deterioration. Spinal Muscular Atrophy: Spinal muscular atrophy (SMA) is a genetic, motor neuron disease characterized by wasting of the skeletal muscles caused by progressive degeneration of the anterior horn cells of the spinal cord. The disorder causes weakness and atrophy of the voluntary muscles. Weakness is often more severe in the legs than in the arms. Researching symptoms of Spinal Muscular Atrophy: Further information about the symptoms of Spinal Muscular Atrophy is available including a list of symptoms of Spinal Muscular Atrophy , other diseases that might have similar symptoms in differential diagnosis of Spinal Muscular Atrophy , or alternatively return to research other symptoms in the symptom center Misdiagnosis and Spinal Muscular Atrophy: Research more detailed information about

50. Introduction: Spinal Muscular Atrophy Type I - WrongDiagnosis.com Introduction to spinal muscular atrophy type I as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/s/spinal_muscular_atrophy_type_i/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Spinal Muscular Atrophy type I Next sections Basic Summary for Spinal Muscular Atrophy type I Prognosis of Spinal Muscular Atrophy type I Symptoms of Spinal Muscular Atrophy type I Inheritance and Genetics of Spinal Muscular Atrophy type I ... Statistics about Spinal Muscular Atrophy type I Next chapters: Spinal Muscular Atrophy type II Spinal Muscular Atrophy type III Fasciculations Adult SMA ... Feedback Introduction: Spinal Muscular Atrophy type I Spinal Muscular Atrophy type I: Type of SMA , a genetic motor neuron disease affecting nerves and muscles. Researching symptoms of Spinal Muscular Atrophy type I: Further information about the symptoms of Spinal Muscular Atrophy type I is available including a list of symptoms of Spinal Muscular Atrophy type I , or alternatively return to research other symptoms in the symptom center Statistics and Spinal Muscular Atrophy type I: Various sources and calculations are available in statistics about Spinal Muscular Atrophy type I , and you can also research other medical statistics in our statistics center Contents for Spinal Muscular Atrophy type I: Basic Summary for Spinal Muscular Atrophy type I Prognosis of Spinal Muscular Atrophy type I Symptoms of Spinal Muscular Atrophy type I Inheritance and Genetics of Spinal Muscular Atrophy type I ... Diseases Did we miss something? Please provide

51. HONselect - Muscular Atrophy, Spinal Oculopharyngeal spinal muscular atrophy Progressive Muscular Atrophy - Scapuloperoneal Form of spinal muscular atrophy - spinal muscular atrophy http://www.hon.ch/HONselect/RareDiseases/C10.228.854.468.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Muscular Atrophy, Spinal - Bulbospinal Neuronopathy - Kennedy Syndrome - Oculopharyngeal Spinal Muscular Atrophy - Progressive Muscular Atrophy - Scapuloperoneal Form of Spinal Muscular Atrophy - Spinal Muscular Atrophy Français: Amyotrophie spinale - Atrophie musculaire progressive - Maladie de Kennedy - Amyotrophie bulbo-spinale héréditaire liée à l'X - Amyotrophie bulbospinale héréditaire liée à l'X - Atrophie musculaire spino-bulbaire - Atrophie musculaire spinobulbaire Deutsch: Muskelatrophie, spinale - Spinale Muskelatrophie - Myelopathische Muskelatrophie - Okulopharyngeale spinale Muskelatrophie - Kennedy-Syndrom - Bulbospinale Neuronopathie - Skapuloperoneale Form der spinalen Muskelatrophie Español: Atrofia Muscular Espinal - Atrofia Muscular Espinal Escapuloperoneal - Atrofia Muscular Espinal Oculofaríngea - Síndrome de Kennedy - Neuropatía Bulboespinal - Atrofia Muscular Espinal Escapulofibular - Atrofia Muscular Progresiva Português: Atrofia Muscular Espinhal - Atrofia Muscular Espinhal Escapuloperoneal - Atrofia Muscular Espinhal de Forma Escapuloperoneal - Atrofia Muscular Espinhal Oculofaríngea - Síndrome de Kennedy - Neuronopatia Bulboespinhal - Atrofia Muscular Espinhal de Forma Escapulofibular HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español Yes Português Yes Home About us Site map ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.228.854.468.html

52. IRSC - Musculoskeletal Disorders, Spinal Muscular Atrophy The Internet Resources for Special Children (IRSC) Global disABILITY resource is dedicated to communicating information relating to the needs of children http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Musculoskeletal Diso

53. BBC - Health - Conditions - Spinal Muscular Atrophy A guide to spinal muscular atrophy. spinal muscular atrophy (SMA) is a condition that affects the nerves in an area of the spinal cord called the http://www.bbc.co.uk/health/conditions/spinalmuscularatrophy1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Spinal muscular atrophy Dr Trisha Macnair We look at the causes and symptoms of the genetic disorder spinal muscular atrophy, as well as the forms of care patients receive. In this article What is it? Types Causes Treatment What is it? Spinal muscular atrophy (SMA) is a condition that affects the nerves in an area of the spinal cord called the anterior horn. These nerve cells become damaged, breaking the link between the brain and the muscles. As a result, the muscles can't be used and become wasted or atrophied. SMA affects the voluntary muscles (especially those closest to the trunk of the body) used for activities such as crawling, walking, head and neck control and swallowing. Types There are several different types of spinal muscular atrophy: type I (severe, also known as Werdnig-Hoffmann syndrome), type II (intermediate) and type III (mild, also known as Kugelberg-Welander disease) affect children, while there are a variety of types of adult-onset SMA that develop later in life. Type I may begin before birth (lack of foetal movement in late pregnancy) or shortly afterwards, and an affected baby is rarely able to lift his head or develop normal movement. Swallowing, feeding and breathing may be difficult, and the child rarely survives to the age of two.

54. BBC - Health - Conditions - Kugelberg-Welander Disease spinal muscular atrophy (SMA) is a condition that affects the nerves in an area of There are several different types of spinal muscular atrophy type I http://www.bbc.co.uk/health/conditions/kugelberg1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Spinal muscular atrophy Dr Trisha Macnair We look at the causes and symptoms of the genetic disorder spinal muscular atrophy, as well as the forms of care patients receive. In this article What is it? Types Causes Treatment What is it? Spinal muscular atrophy (SMA) is a condition that affects the nerves in an area of the spinal cord called the anterior horn. These nerve cells become damaged, breaking the link between the brain and the muscles. As a result, the muscles can't be used and become wasted or atrophied. SMA affects the voluntary muscles (especially those closest to the trunk of the body) used for activities such as crawling, walking, head and neck control and swallowing. Types There are several different types of spinal muscular atrophy: type I (severe, also known as Werdnig-Hoffmann syndrome), type II (intermediate) and type III (mild, also known as Kugelberg-Welander disease) affect children, while there are a variety of types of adult-onset SMA that develop later in life. Type I may begin before birth (lack of foetal movement in late pregnancy) or shortly afterwards, and an affected baby is rarely able to lift his head or develop normal movement. Swallowing, feeding and breathing may be difficult, and the child rarely survives to the age of two.

55. Spinal Muscular Atrophy links to national and international support groups, clinics with genetic counselors and geneticists. http://www.kumc.edu/gec/support/spinal_m.html

Spinal Muscular Atrophy (SMA, Werdnig-Hoffman, Kugelberg-Welander, Kennedy) Families of SMA (Spinal Muscular Atrophy) P.O. Box 196 Libertyville, IL 60048-0196 Phone: 800. 886.1762 or 847.367.7620 Fax: 708. 432.5551 Web page: http://www.fsma.org/ E-mail: sma@interaccess.com Other SMA links Open Letter to Parents of Newly Diagnosed Children Understanding SMA Also See: National organizations , resources on genetic conditions or birth defects Muscular dystrophy / atrophy resources Muscular Dystrophy Association , Canada Neuromuscular Diseases in the MDA Program , Muscular Dystrophy Association SMA Angels Spinal Muscular Atrophy, Werdnig-Hoffmann Disease SMA mini-fact sheet National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, July 2001 Spinal Muscular Atrophy , GeneClinics Spinal Muscular Atrophy , Muscular Dystrophy Association, Australia, Navigate to "disorders" on the menu Spinal Muscular Atrophy , Vanderbilt Medical Center Spinal Muscular Atrophy I I , (SMA1), OMIM, Online Mendelian Inheritance in Man , Pediatric Database Spinal Muscular dystrophy: the Ins and Outs , slide lecture, D Leonard, University of Pennsylvania Health System, Philadelphia, Jan 2000 To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

56. AllRefer Health - Spinal Muscular Atrophy (Werdnig-Hoffmann Disease) spinal muscular atrophy (WerdnigHoffmann Disease) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, http://health.allrefer.com/health/spinal-muscular-atrophy-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Spinal Muscular Atrophy Spinal Muscular Atrophy Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Werdnig-Hoffmann Disease Definition A group of inherited diseases that cause progressive muscle degeneration and weakness , eventually leading to death. Superficial Anterior Muscles Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is inherited as an autosomal recessive trait (a person needs to get the defective gene from both parents to be affected) and has an incidence of approximately 4 per 100,000 people.

57. Hereditary Motor Syndromes Bulbospinal muscular atrophy with Gynecomastia (Autosomal Dominant)1 spinal muscular atrophy, type I, with congenital bone fractures http://www.neuro.wustl.edu/neuromuscular/synmot.html

Front Search Index Links ... Patient Info HEREDITARY MOTOR SYNDROMES (SMA, ALS + ...) Hereditary ALS Dominant ALS 1 ALS 3 ... ALS 4 : Senataxin; 9q34 ALS 6 ALS 7 ALS 8 : VAPB; 20q13 ALS-FTD Bulbar ALS Recessive ALS 2 : Alsin; 2q33 ALS 5 X-linked ALS X Childhood-onset ALS : Alsin; 2q33; Recessive : Senataxin; 9q34; Dominant : 15q15; Recessive Other (Type 2) Other Neurofilament, Heavy subunit Peripherin Western Pacific Bulbar syndromes ... AAA syndrome : Aladin; 12q13; Recessive Brown-Vialetto-van Laere : Recessive BSMA: Dominant Bulbar ALS Fazio-Londe : Recessive or Dominant Kennedy's Syndrome (BSMA): Androgen Receptor; Xq12 PLS, Juvenile : Alsin; 2q33; Recessive Worster-Drought Multisystem disorders AAA syndrome : Aladin; 12q13; Recessive : Dominant DDPAC : MAPT; 17q21; Dominant Hexosaminidase A Machado-Joseph : Ataxin-3; 14q32; Dominant Mitochondrial: : Recessive Polyglucosan body disease : GBE1; 3p12; Recessive Spastic paraparesis + Motor neuropathy Spinal muscular atrophy (SMA) : Types SMA : SMN 5q; Recessive Congenital with arthrogryposis Werdnig-Hoffmann Kugelberg-Welander Recessive SMA: Other Spinal muscular atrophy 2 SMA + Congenital fractures SMA + Pontocerebellar hypoplasia Mitochondrial X-linked SMA Bulbo-SMA (Kennedy's) : Androgen Receptor; Xq12

58. Spinal Muscular Atrophy SMA General pathology SMA, Congenital (Type 0) SMA, Type 1 SMA, Type 2 Also see spinal muscular atrophy XBSMA pathology http://www.neuro.wustl.edu/neuromuscular/pathol/sma.htm

SPINAL MUSCULAR ATROPHY (5q) SMA: General pathology SMA, Congenital (Type 0) SMA, Type 1 SMA, Type 2 Also see Spinal muscular atrophy XBSMA pathology SMA 5q: General Features ATPase pH 9.4 stain Grouped atrophy Small muscle fibers are often rounded Pyknotic nuclear clumps are not present. Large muscle fibers are hypertrophied. Large fibers Small fibers : Type I or II SMA, Type 2 Large grouped atrophy Clusters of large type I muscle fibers ATPase, pH 9.4 ATPase, pH 9.4 Small muscle fibers may be varied types (Left) or mostly type II (Right) ATPase, pH 4.3 NADH Many small fibers are type IIC Small fibers stain darkly on NADH SMA, Type 1 Many muscle fibers are small. A few hypertrophied fibers are present SMA, Congenital (Type 0) Only small muscle fibers are present. Small fibers have moderate variation in size Also see: Active Denervation Fiber type grouping Return to Neuromuscular syndromes Return to Neuromuscular home page Return to Hereditary motor syndromes

59. Spinal Muscular Atrophy - Genetics Home Reference Where can I find additional information about spinal muscular atrophy? What other names do people use for spinal muscular atrophy? http://ghr.nlm.nih.gov/condition=spinalmuscularatrophy

Home What's New Browse Handbook ... Search Spinal muscular atrophy Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Spinal muscular atrophy On this page: What is spinal muscular atrophy? How common is spinal muscular atrophy? ... help with understanding spinal muscular atrophy? What is spinal muscular atrophy? Spinal muscular atrophy is a disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells (motor neurons) in the spinal cord and the part of the brain that is connected to the spinal cord (brain stem). The loss of motor neurons leads to weakness and shrinkage (atrophy) of voluntary muscles used for activities such as crawling, walking, sitting up, and controlling head movement. Spinal muscular atrophy is divided into subtypes based on the severity and age of onset of symptoms. Type I (also called Werdnig-Hoffman disease) is the most severe form of spinal muscular atrophy. Symptoms are evident at birth or within the first few months of life. Typically, affected infants have difficulty breathing and swallowing, and they are unable to sit or stand. Children with type II spinal muscular atrophy usually develop muscle weakness between 6 and 12 months of age. Children with type II can sit, although they cannot stand or walk unaided.

60. Distal Spinal Muscular Atrophy, Type V - Genetics Home Reference What other names do people use for distal spinal muscular atrophy, type V? Mutations in the GARS gene cause distal spinal muscular atrophy, type V. http://ghr.nlm.nih.gov/condition=distalspinalmuscularatrophytypev

Home What's New Browse Handbook ... Search Distal spinal muscular atrophy, type V Related Gene(s) Quick links to this topic MedlinePlus Health Information PubMed Recent literature OMIM Genetic disorder catalog References Distal spinal muscular atrophy, type V On this page: What is distal spinal muscular atrophy, type V? How common is distal spinal muscular atrophy, type V? ... help with understanding distal spinal muscular atrophy, type V? What is distal spinal muscular atrophy, type V? Distal spinal muscular atrophy, type V is a progressive disorder that affects nerve cells in the spinal cord and weakens muscles in the hands and feet. Symptoms of distal spinal muscular atrophy, type V usually begin during adolescence, but onset varies from late childhood to the mid-30s. Cramps in the hand induced by the cold are often the initial symptom. The main characteristics of this disorder are weakness and wasting away (atrophy) of hand muscles, specifically on the thumb side of the index finger and in the mound of the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common. People with this disorder lead active lives and have normal life expectancies. How common is distal spinal muscular atrophy, type V?

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