Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Am J Med Genet A
; 182(10): 2369-2371, 2020 10.
Article
en En
| MEDLINE
| ID: mdl-32627310
ABSTRACT
Genetic variations in the ASAH1 gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA-PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA-PME is characterized by childhood onset progressive weakness due to motor neuron disease followed by progressive epilepsy, tremor, and sensorineural hearing loss. We present a case of a 4-year-old boy with phenotypic features of both FD and SMA who was found to have two previously unreported heterozygous variants in the ASAH1 gene.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Atrofia Muscular Espinal
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Predisposición Genética a la Enfermedad
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Lipogranulomatosis de Farber
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Ceramidasa Ácida
Límite:
Child
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Child, preschool
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Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos