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When does the onset of adult adrenomyeloneuropathy occur?
Adult adrenomyeloneuropathy (AMN) affects 30% of men with ALD, onset of symptoms may occur anywhere from adolescence to late adulthood, and progression of the disorder may occur over several decades
How do you spell adrenoleukodystrophy?
That is the correct spelling of "adrenoleukodystrophy" (also called Siemerling-Creutzfeldt Disease and adrenomyeloneuropathy) a disorder affecting myelin sheaths in the nervous system.
What is the treatment for adrenomyeloneuropathy?
Treatment for adrenomyeloneuropathy focuses on managing symptoms and slowing disease progression. This may include physical therapy for muscle weakness and mobility, medications to address symptoms like spasticity and pain, and monitoring adrenal function. Stem cell transplantation has shown promise in some cases, but more research is needed to determine its long-term effectiveness.
What are the demographics of adrenomyeloneuropathy?
ALD is found in all ethnic groups. About one in every 100,000 people suffers from ALD. Because the most severe form, called classic ALD, is X-linked, many more males than females are affected.
What is distinctive about adult-onset adrenoleukodystrophy?
The adult-onset form of the disease, also called adrenomyeloneuropathy, is milder, progresses slowly, is usually associated with a normal life span, and usually appears between ages 21-35. Symptoms may include.
What are the chances of a person with adrenoleukodystrophy passing the disease to their offspring?
a) As this condition is presented very early in life (4-10) and boys would unfortunately die after 1 to 10 years, rarely would any one with this condition have decendents. b) In its adult form (Adrenomyeloneuropathy) its simple (X linked): - a Man will pass it through all her girls and non of his boys - a Woman would have a 50/50 chance of passing it through to their kids either a girl or a boy. Do remember that the condition is developed mainly by males.
Adrenoleukodystrophy?
DefinitionAdrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).Alternative NamesAdrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison ComplexCauses, incidence, and risk factorsAdrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20,000 people from all races.The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are three major categories of disease:Childhood cerebral form -- appears in mid-childhood (at ages 4 - 8)Adrenomyelopathy -- occurs in men in their 20s or later in lifeImpaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormonesSymptomsChildhood cerebral type:Changes in muscle tone, especially muscle spasms and spasticityCrossed eyes(strabismus)Decreased understanding of verbal communication (aphasia)Deterioration of handwritingDifficulty at schoolDifficulty understanding spoken materialHearing lossHyperactivityWorsening nervous system deterioration ComaDecreased fine motor controlParalysisSeizuresSwallowing difficultiesVisual impairment or blindnessAdrenomyelopathy:Difficulty controlling urinationPossible worsening muscle weakness or leg stiffnessProblems with thinking speed and visual memoryAdrenal gland failure (Addison type):ComaDecreased appetiteIncreased skin color (pigmentation)Loss of weight, muscle mass (wasting)Muscle weaknessVomitingSigns and testsBlood levelsChromosome study to look for changes (mutations) in the ABCD1 geneMRI of the headTreatmentAdrenal dysfunction is treated with steroids (such as cortisol).A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids.These oils are called Lorenzo's oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.Bone marrow transplant is also being tested as an experimental treatment.Expectations (prognosis)The childhood form of X-linked adrenoleukodystrophy is a progressive disease that leads to a long-term coma (vegetative state) about 2 years after neurological 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.ComplicationsAdrenal crisisVegetative state (long-term coma)Calling your health care providerCall your health care provider if:Your child develops symptoms of X-linked adrenoleukodystrophyYour child has X-linked adrenoleukodystrophy and is getting worsePreventionGenetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. Female carriers can be diagnosed 85% of the time using a very-long-chain fatty acid test and a DNA probe study done by specialized laboratories.Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from chorionic villus samplingor amniocentesis.ReferencesJohnston MV. Neurodegenerative disorders of childhood. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 599.
