BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAdrenoleukodystrophyX-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison ComplexAdrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are often passed down (inherited) in families. Causes Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males. Some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.X-linked genetic traitGenetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, ski...ImageRead Article Now Book Mark Article Some cases of adrenoleukodystrophy occur when the gene mutates on its own. This is called sporadic and is not inherited.The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes. This disrupts normal activity in these parts of the body. There are three major categories of disease:Childhood cerebral form -- appears in mid-childhood (at ages 4 to 8) Adrenomyelopathy -- occurs in men in their 20s or later in life Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones Symptoms Childhood cerebral type symptoms include:Changes in muscle tone, especially muscle spasms and uncontrolled movements Crossed eyes Crossed eyesStrabismus is a disorder in which both eyes do not line up in the same direction. Therefore, they do not look at the same object at the same time. ...ImageRead Article Now Book Mark Article Handwriting that gets worse Difficulty at school Difficulty understanding what people are saying Hearing loss Hyperactivity HyperactivityHyperactivity means having increased movement, impulsive actions, a shorter attention span, and being easily distracted.ImageRead Article Now Book Mark Article Worsening nervous system damage, including coma, decreased fine motor control, and paralysis Seizures Swallowing difficulties Visual impairment or blindnessAdrenomyelopathy symptoms include:Difficulty controlling urination Possible worsening muscle weakness or leg stiffness Problems with thinking speed and visual memoryAdrenal gland failure (Addison type) symptoms include:Coma Decreased appetite Increased skin color Loss of weight and muscle mass (wasting) Muscle weakness Vomiting Exams and Tests Tests for this condition include:Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland Chromosome study to look for changes (mutations) in the ABCD1 gene MRI of the head Skin biopsy Treatment Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.A specific treatment for X-linked adrenoleukodystrophy is not available. A bone marrow transplant may stop worsening of the condition.Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life. Support Groups More information and support for people with adrenoleukodystrophy and their families can be found at:National Organization for Rare Disease Disorders -- rarediseases.org/rare-diseases/adrenoleukodystrophy NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy Outlook (Prognosis) The childhood form of X-linked adrenoleukodystrophy is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs.The other forms of this disease are milder. Possible Complications These complications can occur:Adrenal crisis Vegetative state When to Contact a Medical Professional Contact your health care provider if:Your child develops symptoms of X-linked adrenoleukodystrophy Your child has X-linked adrenoleukodystrophy and is getting worse Prevention Genetic counseling is recommended for couples with a family history of X-linked adrenoleukodystrophy. Mothers of affected sons have an 85% chance of being a carrier for this condition.Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.ImageRead Article Now Book Mark Article AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...ImageRead Article Now Book Mark Article Open ReferencesReferencesJames WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Errors in metabolism. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 26.Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 29.Stanley CA, Bennett MJ. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 104.AllVideoImagesTogNeonatal adrenoleukodystrophy - illustration NALD is an inheritable disorder that affects multiple organs, including the adrenal glands and the white matter of the brain. Some of the symptoms for this disorder include seizures, hyperactivity, crossed eyes, paralysis, hearing loss, and muscular weakness.Neonatal adrenoleukodystrophyillustrationAdrenal glands - illustration Triangular-shaped glands located on top of the kidneys. They produce steroid hormones such as aldosterone, cortisol, and precursor sex steroids that can be converted into estrogen and testosterone. They also produce the hormones adrenalin (epinephrine) and noradrenalin (norepinephrine). Adrenal glandsillustrationNeonatal adrenoleukodystrophy - illustration NALD is an inheritable disorder that affects multiple organs, including the adrenal glands and the white matter of the brain. Some of the symptoms for this disorder include seizures, hyperactivity, crossed eyes, paralysis, hearing loss, and muscular weakness.Neonatal adrenoleukodystrophyillustrationAdrenal glands - illustration Triangular-shaped glands located on top of the kidneys. They produce steroid hormones such as aldosterone, cortisol, and precursor sex steroids that can be converted into estrogen and testosterone. They also produce the hormones adrenalin (epinephrine) and noradrenalin (norepinephrine). Adrenal glandsillustrationRelated Information Metabolism(Special Topic)Adrenal glands(Special Topic)Testes(Special Topic)Genetics(Special Topic)Hyperactivity(Symptoms)Strabismus(Condition)Seizures(Symptoms)White matter of the brain(Special Topic)Contracture deformity(Symptoms)Decreased alertness(Symptoms)Attention deficit hyperactivity disorder - InDepth(In-Depth) Review Date: 11/1/2021 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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AdrenoleukodystrophyX-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison ComplexAdrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are often passed down (inherited) in families. Causes Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males. Some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.X-linked genetic traitGenetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, ski...ImageRead Article Now Book Mark Article Some cases of adrenoleukodystrophy occur when the gene mutates on its own. This is called sporadic and is not inherited.The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes. This disrupts normal activity in these parts of the body. There are three major categories of disease:Childhood cerebral form -- appears in mid-childhood (at ages 4 to 8) Adrenomyelopathy -- occurs in men in their 20s or later in life Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones Symptoms Childhood cerebral type symptoms include:Changes in muscle tone, especially muscle spasms and uncontrolled movements Crossed eyes Crossed eyesStrabismus is a disorder in which both eyes do not line up in the same direction. Therefore, they do not look at the same object at the same time. ...ImageRead Article Now Book Mark Article Handwriting that gets worse Difficulty at school Difficulty understanding what people are saying Hearing loss Hyperactivity HyperactivityHyperactivity means having increased movement, impulsive actions, a shorter attention span, and being easily distracted.ImageRead Article Now Book Mark Article Worsening nervous system damage, including coma, decreased fine motor control, and paralysis Seizures Swallowing difficulties Visual impairment or blindnessAdrenomyelopathy symptoms include:Difficulty controlling urination Possible worsening muscle weakness or leg stiffness Problems with thinking speed and visual memoryAdrenal gland failure (Addison type) symptoms include:Coma Decreased appetite Increased skin color Loss of weight and muscle mass (wasting) Muscle weakness Vomiting Exams and Tests Tests for this condition include:Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland Chromosome study to look for changes (mutations) in the ABCD1 gene MRI of the head Skin biopsy Treatment Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.A specific treatment for X-linked adrenoleukodystrophy is not available. A bone marrow transplant may stop worsening of the condition.Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life. Support Groups More information and support for people with adrenoleukodystrophy and their families can be found at:National Organization for Rare Disease Disorders -- rarediseases.org/rare-diseases/adrenoleukodystrophy NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy Outlook (Prognosis) The childhood form of X-linked adrenoleukodystrophy is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs.The other forms of this disease are milder. Possible Complications These complications can occur:Adrenal crisis Vegetative state When to Contact a Medical Professional Contact your health care provider if:Your child develops symptoms of X-linked adrenoleukodystrophy Your child has X-linked adrenoleukodystrophy and is getting worse Prevention Genetic counseling is recommended for couples with a family history of X-linked adrenoleukodystrophy. Mothers of affected sons have an 85% chance of being a carrier for this condition.Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.ImageRead Article Now Book Mark Article AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...ImageRead Article Now Book Mark Article Open ReferencesReferencesJames WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Errors in metabolism. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 26.Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 29.Stanley CA, Bennett MJ. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 104.