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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hereditary diffuse leukoencephalopathy with spheroids


Other Names for this Disease

  • Adult-onset leukodystrophy with neuroaxonal spheroids
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
  • HDLS
  • Hereditary diffuse leukoencephalopathy with axonal spheroids
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 signs and symptoms of hereditary diffuse leukoencephalopathy with spheroids (HDLS)?

HDLS is characterized by leukoencephalopathy, which is damage to a type of brain tissue called white matter (made up of nerve fibers (axons) covered by myelin). Also common in HDLS are swellings called spheroids in the axons of the brain, which are a sign of axon damage. This damage is thought to contribute to the symptoms see in this condition, including personality changes (including a loss of social inhibitions and depression which are among the earliest symptoms of HDLS), memory loss and loss of executive function (the ability to plan and implement actions and develop problem-solving strategies which impairs skills such as impulse control, self-monitoring, and focusing attention appropriately). Some people with HDLS have mild seizures early in the disease and may experience a severe decline in thinking and reasoning abilities (dementia) as the disease progresses. Over time, motor skills are affected, and people with HDLS may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family. Over time, almost all affected individuals become unable to walk, speak, and care for themselves.[1]
Last updated: 3/27/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary diffuse leukoencephalopathy with spheroids. 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 the cerebral white matter -
Adult onset -
Apraxia -
Autosomal dominant inheritance -
Bradykinesia -
CNS demyelination -
Depression -
Frontal lobe dementia -
Gliosis -
Hyperreflexia -
Memory impairment -
Mutism -
Neuronal loss in central nervous system -
Postural instability -
Rapidly progressive -
Rigidity -
Shuffling gait -
Spasticity -

Last updated: 11/3/2014

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. Hereditary diffuse leukoencephalopathy with spheroids. Genetics Home Reference (GHR). December 2012; http://ghr.nlm.nih.gov/condition/hereditary-diffuse-leukoencephalopathy-with-spheroids. Accessed 3/27/2013.


Other Names for this Disease
  • Adult-onset leukodystrophy with neuroaxonal spheroids
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
  • HDLS
  • Hereditary diffuse leukoencephalopathy with axonal spheroids
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.