Back to Search
Start Over
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Jan; Vol. 30 (1), pp. 35-37. Date of Electronic Publication: 2019 Nov 14. - Publication Year :
- 2020
-
Abstract
- X-linked infantile spinal muscular atrophy (SMAX2), OMIM 301830, is a rare, severe form of spinal muscular atrophy, caused by variants in the Ubiquitin like modifier-activating enzyme 1 (UBA1) gene. Clinical features reported to date include marked hypotonia, areflexia, arthrogryposis, contractures, myopathic facies and tongue fibrillations. Previous reports have included a history of contractures. We report a male patient presenting following a normal pregnancy with typical symptoms of X-linked infantile spinal muscular atrophy including hypotonia, weakness, areflexia and respiratory insufficiency, however contractures were absent. There was a significant family history of neuromuscular disease on the maternal side, with several male relatives all dying before the age of six months. Creatine Kinase was mildly elevated, MRI Brain was normal and neurophysiological testing revealed a diffuse motor neuronopathy. Genetic testing for SMN1 gene was normal. UBA1 sequencing revealed a maternally inherited hemizygous familial variant [c.1681G>A p. (Asp561Asn)], which has not been previously reported.<br /> (Copyright © 2019 Elsevier B.V. All rights reserved.)
- Subjects :
- Arthrogryposis complications
Arthrogryposis etiology
Genetic Diseases, X-Linked complications
Humans
Infant
Male
Mutation
Phenotype
Arthrogryposis genetics
Arthrogryposis physiopathology
Genetic Diseases, X-Linked genetics
Genetic Diseases, X-Linked physiopathology
Ubiquitin-Activating Enzymes genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2364
- Volume :
- 30
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Report
- Accession number :
- 31932168
- Full Text :
- https://doi.org/10.1016/j.nmd.2019.11.004