Types of Leukodystrophy: Fact sheets on each are available at the United Leukodystrophy Foundation

  • 18q Syndrome with deficiency of myelin basic protein
  • Acute Disseminated Encephalomyeolitis (ADEM)
  • Acute Disseminated Leukoencephalitis
  • Acute Hemorrhagic Leukoencephalopathy
  • Adrenoleukodystrophy X-Linked (ALD)
  • Adrenomyeloneuropathy (AMN)
  • Aicardi-Goutieres Syndrome
  • Alexander Disease
  • Adult-onset Autosomal Dominant Leukodystrophy (ADLD)
  • Autosomal Dominant Diffuse Leukoencephalopathy with neuroaxonal spheroids (HDLS)
  • Autosomal Dominant Late-Onset Leukoencephalopathy
  • Childhood Ataxia with diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)
  • Canavan Disease
  • Cerebral Autosomal Dominant Arteropathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
  • Cerebrotendinous Xanthomatosis (CTX)
  • Craniometaphysical Dysplasia with Leukoencephalopathy
  • Cystic Leukoencephalopathy with RNASET2
  • Extensive Cerebral White Matter abnormality without clinical symptoms
  • Familial Adult-Onset Leukodystrophy manifesting as cerebellar ataxia and dementia
  • Familial Leukodystrophy with adult onset dementia and abnormal glycolipid storage
  • Globoid Cell Leukodystrophy (Krabbe Disease)
  • Hereditary Adult Onset Leukodystrophy simulating chronic progressive multiple sclerosis
  • Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (HABC)
  • Hypomyelination, Hypogonadotropic, Hypogonadism and Hypodontia (4H Syndrome)
  • Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease)
  • Metachromatic Leukodystrophy (MLD)
  • Megalencephalic Leukodystrophy with subcortical Cysts (MLC)
  • Neuroaxonal Leukoencephalopathy with axonal spheroids (Hereditary diffuse leukoencephalopathy with spheroids – HDLS)
  • Neonatal Adrenoleukodystrophy (NALD)
  • Oculodetatoldigital Dysplasia with cerebral white matter abnormalities
  • Orthochromatic Lleukodystrophy with pigmented glia
  • Ovarioleukodystrophy Syndrome
  • Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)
  • Refsum Disease
  • Sjogren-Larssen Syndrome
  • Sudanophilic Leukodystrophy
  • Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC)
  • Vanishing White Matter Disease (VWM) or Childhood ataxia with diffuse central nervous system hypomyelination, (CACH)
  • X-linked Adrenoleukodystrophy (X-ALD)
  • Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease

Leukodystophy

  • Types of Leukodystrophy

    More detailed information about the 40 currently known forms of Leukodystrophy.

  • Symptoms

    What are the symptoms of Leukodystrophy?

  • Causes

    What causes Leukodystrophy?

  • Diagnosis

    How is Leukodystrophy diagnosed?

  • Treatment

    What are the treatment options for Leukodystrophy?

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