Type 0 Spinal Muscular Atrophy in rare association with congenital contracture and generalized osteopenia: A Case Report
Iranian Journal of Child Neurology,
Vol. 12 No. 1 (2018),
20 December 2017
Spinal muscular atrophy (SMAs) is a group of rare autosomal recessive diseases in which there is degeneration of alpha motor neurons in the spinal cord leading to progressive distal motor weakness. Here we report a case of type 0 SMA in newborn with generalized osteopenia and bony deformity in form of unilateral club foot. It may be emphasized that diagnosis of SMA should be kept in mind as a differential in cases of unexplained severe generalized hypotonia and severe respiratory compromise immediately after birth.
- Spinal muscular atrophy
- type 0
How to Cite
Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paeditar N Neurol1999;3(2):49-51.
Pavone P, Velardita M, Trigilia T, Luca G, Lucenti C, Romeo G, et al. Neonatal muscular spinal atrophy: a case report. Pediatr Med Chir 2004; 26(2):139-41.
MacLeod MJ,Taylor JE,Lunt PW, Mathew CG,Robb SA.Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 1999;3:65-72.
Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martínez F, Palau F, et al. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genet Med. 2007;9:52-60.
Melanie J Macleod, Joanne ET, Peter WL, Christopher GM, Stephanie AR. Prenatal onset spinal muscular atrophy. Eur J Paed Neurol. 1999;3:6.
Eve V, Inga T, Andres K, Hiljar S, Katre M, Tuuli M, et al. Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect. J Child Neurol. 2007;22:67-70.
Rodriguez JI, Garcia-Alix A, Palacios J, Paniagua R. Changes in the long bones due to fetal immobility caused by neuromuscular disease. Bone Joint Surg (Am). 1988;70:1052-6.
- Abstract Viewed: 139 times
- PDF Downloaded: 230 times