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GTR Home > Tests > LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic

Clinical summary

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Imported from GeneReviews

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.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cerebellar ataxia
  • Constipation
  • Depression
  • Bowel incontinence
  • Gliosis
  • Leukodystrophy
  • Spasticity
  • Nystagmus
  • Pseudobulbar paralysis
  • Babinski sign
  • Hyperreflexia
  • Personality changes
  • Corpus callosum atrophy
  • Progressive neurologic deterioration
  • Abnormal cerebellum morphology
  • Diffuse leukoencephalopathy
  • Autonomic erectile dysfunction
  • Decreased sweating due to autonomic dysfunction
  • Orthostatic hypotension due to autonomic dysfunction
  • Symmetric peripheral demyelination
  • Autonomic bladder dysfunction
  • Impotence
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Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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