Back to Search
Start Over
Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.
- Source :
- Iranian Journal of Child Neurology; Summer2024, Vol. 18 Issue 3, p131-135, 5p
- Publication Year :
- 2024
-
Abstract
- Spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (PME) affects the nervous system. Symptoms appear in early childhood and include muscle weakness, difficulty walking, seizures, and cognitive decline. Despite introducing various therapies to restore acid ceramidase function or reduce ceramide accumulation and gene therapy to correct genetic mutations, there are still unknown underlying molecular mechanisms related to this disorder. This article reports a novel variant c.118G>C in the ASAH1 gene. The patient presented with clinical manifestations such as progressive muscle weakness and myoclonic convulsions. Clinical features and electrophysiological investigations revealed a motor neuron disease and generalized epileptic discharge. A significant temporal interval was observed between the initial diagnosis of SMA and the subsequent manifestation of myoclonic seizures. The proband was genetically assessed through whole exome sequencing (WES) followed by variant confirmation and bioinformatics analysis. According to this article's findings and previous research, further diagnostic testing and management are needed to determine the severity and progression of the patient's condition. [ABSTRACT FROM AUTHOR]
- Subjects :
- GENE therapy
BENZODIAZEPINES
ELECTROENCEPHALOGRAPHY
GAIT disorders
MAGNETIC resonance imaging
TRANQUILIZING drugs
MUSCLE weakness
NEUROLOGICAL disorders
BIOINFORMATICS
ELECTROMYOGRAPHY
OCCUPATIONAL therapy
EPILEPSY
SEIZURES (Medicine)
COGNITION disorders
ACID ceramidase
GENETIC mutation
MOLECULAR biology
SPINAL muscular atrophy
SYMPTOMS
Subjects
Details
- Language :
- English
- ISSN :
- 17354668
- Volume :
- 18
- Issue :
- 3
- Database :
- Supplemental Index
- Journal :
- Iranian Journal of Child Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 178722832
- Full Text :
- https://doi.org/10.22037/ijcn.v18i3.44081