Adrenoleukodystrophy - What It Is, Symptoms and Treatmentsthat we should know. In additionadrenoleukodystrophy(ALD) refers to several different hereditary conditions that affect the nervous system and adrenal glands. The three main categories ofadrenoleukodystrophyareadrenoleukodystrophycerebral infantile,adrenoleukodystrophyand Addison's disease.
The gene that causes AML was identified in 1993. According to the Oncofertility Consortium, ALD occurs in about 1 in 2, 00 to 5, 00 people and affects mostly men. Women with the gene tend to be asymptomatic or mildly symptomatic, which means that there are no symptoms or few symptoms. The symptoms, treatments and prognosis of ALD vary depending on which type is present. ALD is not curable, but doctors can sometimes slow it down.
Types of Adrenoleukodystrophy:There are three types ofadrenoleukodystrophy..
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- Cerebral AMD involves mainly children between 3 and 10 years of age. It progresses very quickly and causes severe incapacity and even death.
- THEadrenomyelopathymainly affects adult males. It is softer than the cerebral infantile AML. It also moves slowly by comparison.
- Addison's disease is also known as adrenal insufficiency. Addison's disease occurs when your adrenal glands do not produce enough hormones.
Main Causes of Adrenomyelopathy:The proteinadrenoleukodystrophy(ALDP) helps your body break down very long chain fatty acids (VLCFAs). If protein does not do its job, the fatty acids accumulate inside your body. This can damage the outer layer of cells in your:
- Spinal cord
- Adrenal glands
People withadrenomyelopathyhave mutations in the gene that makes ALDP. Their bodies do not produce enough ALDP..
Men are typically affected byadrenomyelopathyat an earlier age than women and usually have more severe symptoms.Adrenomyelopathyaffects males more than females because it is inherited in an X-linked pattern. This means that the responsible genetic mutation is on the X chromosome. Men have only one X chromosome, while women have two. Because women have two X chromosomes, they may have a normal gene and a copy with the genetic mutation..
Women who have only one copy of the mutation have much milder symptoms than men. In some cases, women who carry the gene have no symptoms. Your normal copy of the gene makes enough ALDP to help mask your symptoms. Most women with ALD haveadrenomyelopathy. Addison's disease and childhood cerebral ALD are less common.
Main Symptoms of Adrenoleukodystrophy:Symptoms ofadrenomyelopathyinclude:.
- Muscle spasms
- Difficulty in swallowing
- Hearing loss
- Problem with understanding the language
- Impaired vision
- With the
- Deterioration of fine engine control
- Crossed eyes
- Insufficient control of urination
- Weak muscles
- Stiffness in the legs
- Difficulty in thinking and remembering visual perceptions
Signs of adrenal insufficiency or Addison's disease include:
- Little appetite
- Weight loss
- Decreased muscle mass
- Weak muscles
- With the
- Darkest areas of skin color or pigmentation
Diagnosis of Adrenoleukodystrophy:Symptoms ofadrenomyelopathycan mimic those of other diseases. Tests are required to distinguishadrenomyelopathyof other neurological conditions. Your doctor may order a blood test to:.
- Look for abnormally high levels of VLCFAs
- Check your adrenal glands
- Find the genetic mutation that causesadrenomyelopathy
Your doctor may also look for damage to your brain using an MRI. Skin samples or a biopsy and culture of fibroblast cells can also be used to test VLCFAs.
Children with suspected ALD may need additional tests, including vision screens.
Treatments for Adrenoleukodystrophy:The methods of treatment depend on the type ofadrenomyelopathythat you own. Steroids can be used to treat Addison's disease. There are no specific methods for treating other types ofadrenomyelopathy..
- Some people were helped by:
- Switching to a diet that contains low levels of VLCFAs
- Taking Lorenzo's oil to help lower high levels of VLCFA
- Taking medicines to relieve symptoms such as seizures
- Doing physical therapy to loosen muscles and reduce spasms
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Doctors continue to seek new treatmentsadrenomyelopathy. Some doctors are experimenting with bone marrow transplants. If children with childhood cerebral AMD are diagnosed early, these experimental procedures may be able to help..
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