Spinal muscular atrophy definition

Spinal muscular atrophy means a genetic disease that affects the part of the nervous system that controls voluntary muscle
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Spinal muscular atrophy means a congenital disorder characterized by the loss of nerve cells in the spinal cord that control muscle movement due to the deletion of exon 7 in the survival motor neuron 1 (SMN1) gene.
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Spinal muscular atrophy means a genetic disease that
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Examples of Spinal muscular atrophy in a sentence

  • Spinal muscular atrophy: diagnosis and management in a new therapeutic era.

  • Spinal muscular atrophy does not satisfy the definition of Muscular Dystrophy.

  • Spinal muscular atrophy: 125 years later and on the verge of a cure.

  • Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

  • Spinal muscular atrophy: clinical classification and disease heterogeneity.

  • Spinal muscular atrophy (SMA) is caused by a bi-allelic mutation in the SMN1 gene, which results in insufficient SMN protein expression.

  • Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production.

  • Spinal muscular atrophy (SMA) Disorders Coming SoonThese conditions have been approved for addition to Michigan’s panel but implementation is in progress and screening has not yet begun.

  • Background Information - Spinal muscular atrophy (SMA) is a severe, inherited progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications in approximately 4 to 10 per 100,000 live births.

  • Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.


More Definitions of Spinal muscular atrophy

Spinal muscular atrophy means an autosomal recessive motor neuron disease primarily affecting neonates and young children that results from a loss of SMN1 (GenBank accession # NM_000344; Gene ID: 6606) protein.
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Spinal muscular atrophy or "SMA" means conditions in which the loss of specialized nerves cells, which control muscle movement leads to progressive weakness and atrophy of muscles used for crawling, walking, sitting up and controlling head movement, and developmental disability. In severe cases, the muscles used for breathing and swallowing may be affected.
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Spinal muscular atrophy means a disease cause by decreased expression of the survival of motor neuron protein.
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Spinal muscular atrophy means a genetic disease that affects the part of the nervous systemthat controls voluntary muscle movement.
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Spinal muscular atrophy means degenerative diseases of the anterior horn cells in the spinal cord and motor nuclei of the brainstem characterized by profound proximal muscular weakness and wasting, primarily in the legs, followed by distal muscle involvement. The damage must result independently of all other sources and directly in the Insured's permanent inability to perform independently three (3) or more of the Activities of Daily Living. The diagnosis must be made by a Specialist Medical Practitioner with appropriate neuromuscular testing such as electromyogram (EMG). Category V Other Illnesses
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Related to Spinal muscular atrophy

  • muscular dystrophy means a group of hereditary genetic muscle disease that weakens the muscles that move the human body and persons with multiple dystrophy have incorrect and missing information in their genes, which prevents them from making the proteins they need for healthy muscles. It is characterised by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue;

  • COVID-19 symptoms means fever of 100.4 degrees Fahrenheit or higher, chills, cough, shortness of breath or difficulty breathing, fatigue, muscle or body aches, headache, new loss of taste or smell, sore throat, congestion or runny nose, nausea or vomiting, or diarrhea, unless a licensed health care professional determines the person’s symptoms were caused by a known condition other than COVID-19.

  • COVID-19 Pandemic means the pandemic caused by COVID-19 or the SARS-Co-V-2 virus (or any mutation or variation thereof).

  • Therapeutically equivalent drug products means drug products that contain the same active ingredients and are identical in strength or concentration, dosage form, and route of administration and that are classified as being therapeutically equivalent by the U.S. Food and Drug Administration pursuant to the definition of "therapeutically equivalent drug products" set forth in the most recent edition of the Approved Drug Products with Therapeutic Equivalence Evaluations, otherwise known as the "Orange Book."

  • Service Animal means an animal that is required by a person with a disability for assistance and is certified, in writing, as having been trained by a professional service animal institution to assist a person with a disability and which is properly harnessed in accordance with standards established by a professional service animal institution.

  • Anabolic steroid means any drug or hormonal substance, chemically and pharmacologically related

  • coronavirus means severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2);

  • Pump spray means a packaging system in which the product ingredients within the container are not under pressure and in which the product is expelled only while a pumping action is applied to a button, trigger or other actuator.

  • Dyslexia means a disorder of constitutional origin manifested by a difficulty in learning to read, write, or spell, despite conventional instruction, adequate intelligence, and sociocultural opportunity.

  • inherited metabolic disease means a disease caused by an inherited abnormality of body chemistry for which testing is mandated by law;

  • Therapeutic diet means meals served that are soft, low-fat, low-sodium or controlled calorie.

  • sickle cell disease means a hemolytic disorder characterized by chronic anemia, painful events, and various complications due to associated tissue and organ damage; "hemolytic" refers to the destruction of the cell membrane of red blood cells resulting in the release of hemoglobin.

  • Diagnosis means the definition of the nature of the Client's disorder. When formulating the Diagnosis of Client, CONTRACTOR shall use the diagnostic codes and axes as specified in the most current edition of the DSM published by the American Psychiatric Association. DSM diagnoses will be recorded on all IRIS documents, as appropriate.

  • Collaborative drug therapy management means participation by an authorized pharmacist and a physician in the management of drug therapy pursuant to a written community practice protocol or a written hospital practice protocol.

  • Therapeutically equivalent means a drug product with the same efficacy and toxicity when administered to an individual as the originally prescribed drug as provided for in Section 39‑24‑40.

  • thalassemia means a group of inherited disorders characterised by reduced or absent amounts of haemoglobin.

  • Stroke means a cerebrovascular accident or infarction (death) of brain tissue, as diagnosed by a Physician, which is caused by hemorrhage, embolism, or thrombosis producing measurable, neurological deficit persisting for at least one hundred eighty (180) days following the occurrence of the Stroke. Stroke does not include Transient Ischemic Attack (TIA) or other cerebral vascular events.

  • COVID-19 Measures means any quarantine, “shelter in place”, “stay at home”, workforce reduction, social distancing, shut down, closure or sequester order, guideline, recommendation or Law, or any other applicable Laws, guidelines or recommendations by any Governmental Entity in connection with or in response to COVID-19.