Rare Endocrinology News
Disease Profile
X-linked adrenoleukodystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
E71.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
X-ALD; Adrenoleukodystrophy; ALD
Categories
Metabolic disorders
Summary
X-ALD is caused by a variation (
Symptoms
- Childhood cerebral form of X-ALD (or symptoms set 1): It mostly present with neurological problems, and typically begin between ages 4-8 years-old. The first noticeable symptom is usually behavior problems in school such as struggling to pay attention. Some boys may have
seizures as their first symptom. As the disease progresses, other symptoms may include vomiting, vision loss, learning disabilities, trouble eating (dysphagia ), deafness, fatigue, and trouble coordinating movements (ataxia ).[2][3] - Adrenomyeloneuropathy (AMN) type (or symptoms set 2): Presents with both adrenal and neurological problems. It usually begin in early to mid-adulthood, and it is the most common presentation. Symptoms can include leg stiffness, weakness and pain in the hands and feet (
peripheral neuropathy ), muscle spasms and weakness, and urinary problems or sexual dysfunction.[2] - Adrenal insufficiency-only (Addison disease-only) type (or symptoms set 3): It is characterized by adrenal insufficiency without neurologic problems. Symptoms of adrenal insufficiency can develop at any time between childhood and adulthood and include decreased appetite, increased pigment (melanin) in the skin making it appear darker, muscle weakness, and vomiting.[4]
Symptoms seen in about 5%-10% of affected males may include:[2]
- Symptom set 4: Onset is between age four and ten years but may occur in adolescence or, rarely, in adults, and may include headache, increased intracranial pressure, paralysis of one side of the body (hemiparesis) or visual field defect, difficulty speaking or other signs of localized brain disease.
- Symptom set 5: Progressive behavioral disturbance,
dementia , and paralysis in an adult - Symptom set 6: Progressive lack of coordination in a child or adult
- Symptom set 7: Problems with urination and bowel abnormalities and occasionally
impotence in at-risk males who have other affected relatives - Symptom set 8. No evidence of neurologic or endocrine dysfunction
Approximately 20% of female who are
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Clumsiness | 0002312 | |
Dementia |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 |
Functional motor deficit | 0004302 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Headache |
Headaches
|
0002315 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Leg muscle stiffness | 0008969 | |
Progressive hearing impairment | 0001730 | |
Progressive spastic paraparesis | 0007199 | |
Sensory impairment | 0003474 | |
Specific learning disability | 0001328 | |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
30%-79% of people have these symptoms | ||
Adrenal insufficiency | 0000846 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
Disinhibition | 0000734 | |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Inappropriate sexual behavior | 0008768 | |
Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Neurogenic bladder |
Lack of bladder control due to nervous system injury
|
0000011 |
Urinary bladder sphincter dysfunction | 0002839 | |
Visual field defect |
Partial loss of field of vision
|
0001123 |
5%-29% of people have these symptoms | ||
Diplopia |
Double vision
|
0000651 |
Impotence |
Difficulty getting a full erection
Difficulty getting an erection
[ more ] |
0000802 |
Paralysis |
Inability to move
|
0003470 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the cerebral white matter | 0002500 | |
Alopecia |
Hair loss
|
0001596 |
Blindness | 0000618 | |
Bowel incontinence |
Loss of bowel control
|
0002607 |
Bulbar palsy | 0001283 | |
Elevated circulating long chain fatty acid concentration | 0003455 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Decreased activity of gonads
|
0000135 | |
Impaired vibration sensation at ankles |
Decreased vibration sense at ankles
Decreased vibration sense in feet
[ more ] |
0006938 |
Incoordination |
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ] |
0002311 |
Limb ataxia | 0002070 | |
Loss of speech | 0002371 | |
Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ] |
0007340 |
Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
Paraparesis |
Partial paralysis of legs
|
0002385 |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Primary adrenal insufficiency | 0008207 | |
Progressive |
Worsens with time
|
0003676 |
Psychosis | 0000709 | |
Seizure | 0001250 | |
Slurred speech | 0001350 | |
Spastic paraplegia | 0001258 | |
Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
CauseDiagnosis
If a diagnosis of X-ALD is suspected, a blood test of very long-chain fatty acids will detect elevated levels in 99% of males. Testing Resources
Treatment The treatment for
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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