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MCID: ATS309
MIFTS: 13
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Autosomal Dominant Leukodystrophy with Autonomic Disease
Categories:
Rare diseases
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MalaCards integrated aliases for Autosomal Dominant Leukodystrophy with Autonomic Disease:
Characteristics:GeneReviews:24
Penetrance
The disease presents in the fourth to fifth decades of adulthood with no gender variation. penetrance is not known but is thought to be 100%...
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Genetics Home Reference
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25
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.
MalaCards based summary : Autosomal Dominant Leukodystrophy with Autonomic Disease, also known as autosomal dominant adult-onset demyelinating leukodystrophy, is related to leukodystrophy, demyelinating, adult-onset, autosomal dominant and leukodystrophy, and has symptoms including cerebellar ataxia, muscle spasticity and abnormal pyramidal signs.
GeneReviews:
NBK338165
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Diseases related to Autosomal Dominant Leukodystrophy with Autonomic Disease via text searches within MalaCards or GeneCards Suite gene sharing:
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UMLS symptoms related to Autosomal Dominant Leukodystrophy with Autonomic Disease:cerebellar ataxia, muscle spasticity, abnormal pyramidal signs, personality changes, cerebellar signs |
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Articles related to Autosomal Dominant Leukodystrophy with Autonomic Disease:
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Search
GEO
for disease gene expression data for Autosomal Dominant Leukodystrophy with Autonomic Disease.
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