Global InformationAutosomal dominant leukodystrophy with autonomic disease information
| Autosomal dominant leukodystrophy with autonomic disease | |
|---|---|
| Other names | Autosomal dominant adult-onset demyelinating leukodystrophy, ADLD, Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant leukodystrophy, Leukodystrophy, demyelinating, adult-onset, autosomal dominant, Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, Multiple sclerosis-like disorder[1] |
 | |
| Specialty | Medical genetics |
| Symptoms | Cognitive deficits, ataxia, and dysfunctions of the autonomic system |
| Complications | Walking difficulties |
| Usual onset | Adulthood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Diagnostic method | Genetic testing |
| Differential diagnosis | Multiple sclerosis |
| Prevention | none |
| Prognosis | Bad, but quality of life can be improved with treatment |
| Frequency | rare, at least 70 people on Earth have been diagnosed with the condition |
| Deaths | Inevitable in patients with this condition |
Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic origin which is characterized by gradual demyelination of the central nervous system which results in various impairments, including ataxia, mild cognitive disability and autonomic dysfunction.[2][3][4] It is part of a group of disorders called "leukodystrophies".[5][6]
- ^ "Autosomal dominant leukodystrophy with autonomic disease". 16 June 2022.
- ^ Finnsson, J.; Melberg, A.; Raininko, R. (2013-08-01). "1H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms". Neuroradiology. 55 (8): 933–939. doi:10.1007/s00234-013-1174-5. ISSN 1432-1920. PMID 23636437. S2CID 915515.
- ^ "ADLD". Global Genes. Retrieved 2022-08-16.
- ^ "Pruebas genéticas - Leucodistrofia autosómica dominante con enfermedad autónoma (Autosomal dominant leukodystrophy with autonomic disease) - Gen LMNB1. - IVAMI". www.ivami.com. Retrieved 2022-08-16.
- ^ "Leukodystrophy - Overview". www.brainandlife.org. Retrieved 2022-08-16.
- ^ Resende, Lucas Lopes; de Paiva, Anderson Rodrigues Brandão; Kok, Fernando; da Costa Leite, Claudia; Lucato, Leandro Tavares (2019-01-01). "Adult Leukodystrophies: A Step-by-Step Diagnostic Approach". RadioGraphics. 39 (1): 153–168. doi:10.1148/rg.2019180081. ISSN 0271-5333. PMID 30620693. S2CID 58586821.