This article is about a genetic disorder linked to a defect in the 11q13.3 area of chromosome 11. For other conditions with similar name, see Spinal muscular atrophies.
Medical condition
Distal spinal muscular atrophy type 1
Other names
Spinal muscular atrophy with respiratory distress type 1 (SMARD1), Distal hereditary motor neuronopathy type 6 (DHMN6) and Severe infantile axonal neuronopathy with respiratory failure
Distal spinal muscular atrophy type 1 is inherited via an autosomal recessive manner.
Specialty
Neurology
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[1][2] 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.[1]
^ abMessina, M. F.; Messina, S.; Gaeta, M.; Rodolico, C.; Salpietro Damiano, A. M.; Lombardo, F.; Crisafulli, G.; De Luca, F. (2011). "Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature". European Journal of Paediatric Neurology. 16 (1): 90–4. doi:10.1016/j.ejpn.2011.10.005. PMID 22099258.
^Giannini, A.; Pinto, A. M.; Rossetti, G.; Prandi, E.; Tiziano, D.; Brahe, C.; Nardocci, N. (2006). "Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1". Intensive Care Medicine. 32 (11): 1851–1855. doi:10.1007/s00134-006-0346-8. PMID 16964485. S2CID 2180011.
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