spinal muscular atrophy type 1

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spinal muscular atrophy type 1

An autosomal recessive condition (OMIM:253300) characterised by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Disease severity is inversely proportional to the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amounts of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is the severest form of the SMAs, with onset before age 6 months. Infants never achieve the ability to sit.

Molecular pathology
Defects of SMN1, which encodes a survival motor neuron protein, cause spinal muscular atrophy types 1–4.
References in periodicals archive ?
Spinal Muscular Atrophy is characterized by loss of motor neurons in the spinal cord and lower brain stem, resulting in severe and progressive muscular atrophy and weakness.
Spinal muscular atrophy is an inherited disease usually diagnosed in the first year of life that affects the motor neurons (nerves from the brain and spinal cord that control muscle movements).
INTRODUCTION: DISCUSSION: Spinal muscular atrophy is characterized by degeneration of motor neuron in anterior cells and motor nuclei in brainstem.
Spinal muscular atrophy is a devastating hereditary disease and is the biggest genetic killer in infancy.
Caron said spinal muscular atrophy is a genetic disease, and in order for a child to be affected, both parents must be carriers of the abnormal gene and both must pass the gene to their child.
The Jennifer Trust for Spinal Muscular Atrophy is looking for cyclists of all abilities to turn pedal power into cash with a bike ride from Solihull to Oxford.
Spinal muscular atrophy is a neuro-muscular condition affecting nerves in the base of the spine.
Spinal muscular atrophy is a symmetrical process with a predilection for the proximal musculature.
INTRODUCTION: Spinal muscular atrophy is an incurable, severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis.
Families of Spinal Muscular Atrophy is dedicated to creating a treatment and cure by: Funding and advancing a comprehensive research program; Supporting SMA families through networking, information and services; Improving care for all SMA patients; Educating health professionals and the public about SMA; Enlisting government support for SMA; Embracing all touched by SMA in a caring community.
Spinal muscular atrophy is a genetic motor neuron disease characterized by the wasting of skeletal muscles.

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