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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Arts syndrome


Other Names for this Disease

  • ARTS
  • Lethal ataxia with deafness and optic atrophy
  • Lethal ataxia-deafness-optic atrophy
  • X-linked fatal ataxia with deafness and loss of vision
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the symptoms of Arts syndrome?

Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).[1]  

Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.[1] 

Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom.[1] 
Last updated: 4/8/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Arts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of immune system physiology 90%
Cognitive impairment 90%
Decreased nerve conduction velocity 90%
Hemiplegia/hemiparesis 90%
Incoordination 90%
Muscular hypotonia 90%
Optic atrophy 90%
Peripheral neuropathy 90%
Visual impairment 90%
Muscle weakness 50%
Respiratory insufficiency 50%
Pancreatic fibrosis 7.5%
Hyperreflexia 5%
Absent speech -
Areflexia -
Ataxia -
Death in infancy -
Drooling -
Dysphagia -
Growth delay -
Hearing impairment -
Immunodeficiency -
Intellectual disability -
Neonatal hypotonia -
Nystagmus -
Progressive muscle weakness -
Recurrent infections -
Recurrent upper respiratory tract infections -
Seizures -
Spinal cord posterior columns myelin loss -
Tetraplegia -
Visual loss -
X-linked recessive inheritance -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Arts syndrome. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/arts-syndrome. Accessed 4/8/2014.


Other Names for this Disease
  • ARTS
  • Lethal ataxia with deafness and optic atrophy
  • Lethal ataxia-deafness-optic atrophy
  • X-linked fatal ataxia with deafness and loss of vision
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.