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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) and hereditary motor neuropathy type 6 (HMN6) — is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalized 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.〔
==Classification==
DSMA1 was identified and classified as a sub-group of spinal muscular atrophies (SMA) in 1974. Currently, various classifications include DSMA1 among general spinal muscular atrophies or distal hereditary motor neuropathies, though the latter has been argued to be more correct.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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