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GTR Home > Conditions/Phenotypes > Adult-onset autosomal dominant demyelinating leukodystrophy

Adult-onset autosomal dominant demyelinating leukodystrophy

Synonyms
Autosomal Dominant Leukodystrophy with Autonomic Disease; Leukodystrophy, adult-onset, autosomal dominant; Multiple sclerosis-like disorder; Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type; Pelizaeus-Merzbacher disease, late-onset type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: LMNB1-Related Autosomal Dominant Leukodystrophy
LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed by pyramidal and cerebellar abnormalities resulting in spasticity, ataxia, and tremor. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Many individuals have sensory deficits starting in the lower limbs. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Raili Raininko
Michael Gosky
Quasar S Padiath
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Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADLD, LMN, LMN2, LMNB, MCPH26, LMNB1
    Summary: lamin B1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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