ADLD
MCID: LKD025
MIFTS: 53
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Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant (ADLD)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
MalaCards integrated aliases for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:
Characteristics:Inheritance:
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:
Autosomal dominant 57
Adult-Onset Autosomal Dominant Leukodystrophy:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder onset in the fourth to sixth decades (mean 40 years) autonomic dysfunction usually precedes obvious neurologic deterioration acute neurologic deterioration after viral illness has been reported duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement HPO:30
leukodystrophy, demyelinating, adult-onset, autosomal dominant:
Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates and protects nerve fibers and promotes the rapid transmission of nerve impulses.People with ADLD develop signs and symptoms of the condition in adulthood, typically in their forties or fifties. The first signs of the condition often involve problems with the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. These problems include difficulty with bowel and bladder function, a sharp drop in blood pressure upon standing (orthostatic hypotension), and erectile dysfunction in men. Rarely, people experience an inability to sweat (anhidrosis), which can lead to a dangerously high body temperature.In ADLD, movement difficulties often develop after the autonomic nervous system problems. Affected individuals can have muscle stiffness (spasticity) or weakness and involuntary rhythmic shaking, called intention tremor because it worsens during movement. People with ADLD often have difficulty coordinating movements (ataxia), including movements that involve judging distance or scale (dysmetria), such as picking up a distant object, and rapidly alternating movements (dysdiadochokinesis), including hand clapping or foot stomping. These movement problems usually first affect the legs, but as the condition worsens, the arms and eventually the face become involved. In some people with ADLD, the symptoms worsen during episodes of fever, infection, or exposure to heat. Due to difficulty walking and an unsteady gait, many affected individuals need a cane, walker, or wheelchair for assistance.Intelligence is usually unaffected; however, people who have had ADLD for a long time may have a decline in intellectual function (dementia). ADLD worsens slowly, and affected individuals usually survive 10 to 20 years after the onset of symptoms. MalaCards based summary: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant, also known as adult-onset autosomal dominant demyelinating leukodystrophy, is related to lmnb1-related autosomal dominant leukodystrophy and leukodystrophy, and has symptoms including personality changes, muscle spasticity and cerebellar ataxia. An important gene associated with Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant is LMNB1 (Lamin B1), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Cytoskeletal Signaling. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are muscle weakness and gait ataxia OMIM®: 57 Autosomal dominant adult-onset demyelinating leukodystrophy is a slowly progressive and fatal disorder that presents in the fourth or fifth decade of life and is characterized clinically by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. ADLD differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis (summary by Padiath et al., 2006). Characteristic MRI findings include T2-weighted hyperintense changes in the upper corticospinal tract and cerebellar peduncles, with later development of confluent white matter changes in the frontoparietal area with relative sparing of the periventricular white matter (summary by Schuster et al., 2011). (169500) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. Disease Ontology: 11 A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has material basis in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. GARD: 19 A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. Orphanet: 58 A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. Wikipedia: 75 Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic... more... |
Human phenotypes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:58 30 (show top 50) (show all 76)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:169500 (Updated 08-Dec-2022)UMLS symptoms related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:personality changes; muscle spasticity; cerebellar ataxia; abnormal pyramidal signs; cerebellar signs MGI Mouse Phenotypes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:45
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Interventional clinical trials:
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Organs/tissues related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:
MalaCards :
Eye,
Spinal Cord,
Cerebellum,
Globus Pallidus,
Liver,
Thalamus,
Brain
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Articles related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:(show top 50) (show all 96)
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ClinVar genetic disease variations for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant:5 (show all 47)
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Search
GEO
for disease gene expression data for Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant.
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Pathways related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:
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