X-linked spinal muscular atrophy type 2

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X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in a X-linked recessive manner by carrier mothers to affected sons.[1][2]

Affected babies have general muscle weakness, weak cry and floppy limbs; consequently, the condition is usually apparent at or even before birth. Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a different genetic defect and only genetic testing can correctly identify the disease.[citation needed]

The disorder is usually fatal in infancy or early childhood due to progressive respiratory failure, although survival into teenage years have been reported.[3] As with many genetic disorders, there is no known cure to SMAX2. Appropriate palliative care may be able to increase quality of life and extend lifespan.[citation needed]

See also


Further reading

  • Baumbach-Reardon L.; Sacharow S.; Ahearn M. E. "Spinal Muscular Atrophy, X-Linked Infantile." 30 Oct 2008 [Updated 13 Sep 2012]. In: Pagon R. A.; Adam M. P.; Ardinger H. H.; et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: www.ncbi.nlm.nih.gov/books/NBK2594.

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