Distal spinal muscular atrophy type 1
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles. The condition is caused by a genetic mutation in the IGHMBP2 gene and is inherited in an autosomal recessive manner. There is no known cure to DSMA1, and research of the disorder is still in early stages due to low incidence and high mortality rates.
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Distal spinal muscular atrophy type 1
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles. The condition is caused by a genetic mutation in the IGHMBP2 gene and is inherited in an autosomal recessive manner. There is no known cure to DSMA1, and research of the disorder is still in early stages due to low incidence and high mortality rates.
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Die Spinale Muskelatrophie mit ...... eines Morbus Werdnig-Hoffmann.
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Distal spinal muscular atrophy ...... ence and high mortality rates.
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23,056,117
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996,294,773
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Distal spinal muscular atrophy type 1 is inherited via an autosomal recessive manner.
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G12.2
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Distal spinal muscular atrophy type 1
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Spinal muscular atrophy with r ...... pathy with respiratory failure
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Die Spinale Muskelatrophie mit ...... eines Morbus Werdnig-Hoffmann.
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Distal spinal muscular atrophy ...... ence and high mortality rates.
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Distal spinal muscular atrophy type 1
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Spinale Muskelatrophie mit Atemnot Typ 1
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Distal spinal muscular atrophy type 1
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