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Lethal ataxia with deafness and optic atrophy

ORPHA1187
Synonym(s) Arts syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • E79.8
OMIM
UMLS
  • C0796028
MeSH
  • C535388
MedDRA -

Summary

Disease definition

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

Epidemiology

It was initially described in 12 male members from five generations of a Dutch family. Arts syndrome has also been described in one Australian family.

Clinical description

Other manifestations included floppiness, susceptibility to infections, and later, flaccid tetraplegia and areflexia.

Etiology

It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis.

Genetic counseling

Arts syndrome is transmitted as an X-linked recessive trait.

Management and treatment

Treatment with S-adenosylmethionine may be beneficial and is currently under evaluation.

Prognosis

The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract.

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Detailed information

Clinical genetics review
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