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Article

Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.

Journal of medicine and life - 1 Jan 2000

Axente Mihaela, Shelby Elena-Silvia, Mirea Andrada, Sporea Corina, Badina Mihaela, Padure Liliana, Ion Daniela Adriana

Abstract excerpt

Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor neurons with subsequent muscle weakness and atrophy. More than 95% of the cases of SMA are represented by homozygous mutations of the SMN1 gene (5q-SMA). Because this disease represents the leading cause of death due to a genetic cause and due to the...

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Identifiers

PMID: 34377212
DOI: 10.25122/jml-2021-0147
PMCID: PMC8321613

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