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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cerebrotendinous xanthomatosis


Other Names for this Disease

  • Cerebral cholesterinosis
  • CTX
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Symptoms

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What are the signs and symptoms of cerebrotendinous xanthomatosis?

The symptoms associated cerebrotendinous xanthomatosis are listed below, including the typical age when each symptom appears.[1]
Last updated: 9/12/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebrotendinous xanthomatosis. 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)
Cataract 90%
Cognitive impairment 90%
Involuntary movements 90%
Multiple lipomas 90%
Abnormality of extrapyramidal motor function 50%
Developmental regression 50%
Hallucinations 50%
Hyperreflexia 50%
Hypertonia 50%
Muscle weakness 50%
Neurological speech impairment 50%
Peripheral neuropathy 50%
Tremor 50%
Abnormality of the liver 7.5%
Cerebral calcification 7.5%
EEG abnormality 7.5%
Limitation of joint mobility 7.5%
Malabsorption 7.5%
Nephrolithiasis 7.5%
Seizures 7.5%
Abnormality of central somatosensory evoked potentials -
Abnormality of cholesterol metabolism -
Abnormality of pyramidal motor function -
Abnormality of the dentate nucleus -
Abnormality of the periventricular white matter -
Angina pectoris -
Ataxia -
Autosomal recessive inheritance -
Cerebellar atrophy -
Cerebral atrophy -
Cholelithiasis -
Delusions -
Dementia -
Diarrhea -
EEG with generalized slow activity -
EMG: axonal abnormality -
Intellectual disability -
Myocardial infarction -
Optic disc pallor -
Osteoporosis -
Pseudobulbar paralysis -
Respiratory insufficiency -
Spasticity -
Tendon xanthomatosis -
Xanthelasma -

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. Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctx. Accessed 9/12/2013.


Other Names for this Disease
  • Cerebral cholesterinosis
  • CTX
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.