The diagnosis for DMSA1 is usually masked by a diagnosis for a respiratory disorder. In infants, DMSAI is usually the cause of acute respiratory insufficiency in the first 6 months of life. The respiratory distress should be confirmed as diaphragmatic palsy by fluoroscopy or by electromyography. Although the patient may have a variety of other symptoms the diaphragmatic palsy confirmed by fluoroscopy or other means is the main criteria for diagnosis. This is usually confirmed with genetic testing looking for mutations in the IGHMBP2 gene. The patient can be misdiagnosed if the respiratory distress is mistaken for a severe respiratory infection or DMSA1 can be mistaken for SMA1 because their symptoms are so similar but the genes which are affected are different. This is why genetic testing is necessary to confirm the diagnosis of DMSA. Classification DSMA1 was identified and classified as a sub-group of<unk>  muscular atrophies (SMA) in<unk> 974. Currently, various classifications include DSMA1 among general<unk>  muscular atrophies or distal hereditary motor neuropathies, though the latter has been argued to be more correct.
Distal spinal muscular atrophy type 1
Distal spinal muscular atrophy type 2
Jokela type spinal muscular atrophy
Spinal muscular atrophy
X-linked spinal muscular atrophy type 2
Fukuyama congenital muscular dystrophy
Becker muscular dystrophy
Ullrich congenital muscular dystrophy