Spinal muscular atrophy definition

Spinal muscular atrophy means a genetic disease that affects the part of the nervous system that controls voluntary muscle movement.
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.
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.

Examples of Spinal muscular atrophy in a sentence

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

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

  • Spinal muscular atrophy: a new player joins the battle for SMN2 exon 7 splicing.

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

  • The following neurodegenerative diseases are included in the call:• Alzheimer’s disease and other dementias• Parkinson’s disease and PD‐related disorders• Prion diseases• Motor neuron diseases• Huntington’s disease• Spinocerebellar ataxia (SCA)• Spinal muscular atrophy (SMA).

  • Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.

  • Spinal muscular atrophy: clinical classification and disease heterogeneity.

  • The following neurodegenerative diseases are included in the call:• Alzheimer’s disease and other dementias• Parkinson’s disease and PD‐related disorders• Prion disease• Motor neuron diseases• Huntington’s disease• Spinocerebellar ataxia (SCA)• Spinal muscular atrophy (SMA).

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

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More Definitions of Spinal muscular atrophy

Spinal muscular atrophy means a genetic disease that
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.
Spinal muscular atrophy means a disease cause by decreased expression of the survival of motor neuron protein.
Spinal muscular atrophy means a genetic disease that affects the part of the nervous systemthat controls voluntary muscle movement.
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

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;

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