Adrenoleukodystrophy: A Silent Battle Within
Adrenoleukodystrophy: A Silent Battle Within🧬 What Is Adrenoleukodystrophy (ALD)?
Adrenoleukodystrophy (ALD) is a rare, inherited disorder that primarily affects the nervous system and adrenal glands. It is caused by mutations in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in tissues such as the brain, spinal cord, and adrenal glands .stopald.org PubMed+4Hospital Infantil de Boston+4neurology.ufl.edu+4
📜 History & First Cases
ALD was first identified in 1923 and was originally known as Schilder’s disease and sudanophilic leukodystrophy. In the 1970s, the term “adrenoleukodystrophy” was introduced to better describe its manifestations .adrenoleukodystrophy.info
🧪 Diagnosis
Diagnosing ALD involves:Hospital Infantil de Boston+8ALD Alliance+8Adrenoleukodystrophy News+8
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Measuring VLCFA levels in blood
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Brain MRI scans
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Genetic testing for mutations in the ABCD1 gene aldconnect.org+8BioMed Central+8NCBI+8
Early diagnosis is crucial, as newborn screening programs, such as those implemented in New York State in 2013, have been shown to improve outcomes by enabling early intervention .adrenoleukodystrophy.info
🧑⚕️ Medical Professionals Involved
A multidisciplinary team typically includes:
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Neurologists,
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Endocrinologists,
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Geneticists,
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Radiologists,
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Nurses and social workers YouTube+4Home+4adrenoleukodystrophy.info+4
🌍 Incidence
ALD affects approximately 1 in 17,000 to 50,000 births worldwide. It predominantly affects males, with females being carriers or, in rare cases, exhibiting milder symptoms later in life .aldconnect.org+13ALD Alliance+13Adrenoleukodystrophy News+13
neurology.ufl.edu+1Hospital Infantil de Boston+1
🧑⚕️ Multidisciplinary Care
Comprehensive care involves:
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Regular monitoring of neurological and adrenal function
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Early initiation of treatments like hematopoietic stem cell transplantation (HSCT)
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Supportive therapies including physical and occupational therapy NCBI
💊 Treatments & Medications
Treatment options include:
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Dietary management to reduce VLCFA intake
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Adrenal hormone replacement therapy
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Hematopoietic stem cell transplantation (HSCT)
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Gene therapy (under investigation) SciELO Brasil+4BioMed Central+4NCBI+4 Wikipedia
🚀 Advances & Challenges
Advancements in newborn screening and early intervention have improved outcomes. However, challenges remain in accessing treatments in low-resource settings and addressing the genetic variability of the disease .adrenoleukodystrophy.info
📜 Legislation
In Brazil, newborn screening for ALD is not yet universally implemented. Advocacy for nationwide screening programs is ongoing to ensure early detection and treatment .SciELO Brasil+6adrenoleukodystrophy.info+6Adrenoleukodystrophy News+6PMC
👨👩👧👦 Family Associations
Here are 10 family associations supporting those affected by ALD:
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ALD Spainaldconnect.org+2aldconnect.org+2aldconnect.org+2stopald.orgALD Alliance+1adrenoleukodystrophy.info+1
❓ FAQ
Q: How is ALD inherited?
A: ALD is inherited in an X-linked recessive pattern, primarily affecting males.stopald.org+12ALD Alliance+12SciELO Brasil+12
Q: Can ALD be cured?
A: While there is no cure, early treatment options like HSCT can halt disease progression if administered before neurological symptoms appear.
Q: Are there support groups for families?
A: Yes, several organizations provide resources and support for families affected by ALD.
https://youtu.be/QoTEB3kDWY8
🔗 Useful Links
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