Alexander disease
- Synonyms
- Alexander's disease; Alexanders leukodystrophy; Megalencephaly in infancy accompanied by progressive spasticity and dementia
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Siddharth Srivastava
- Amy Waldman
- Sakkubai Naidu
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the eye
- Microcoria
Microcoria
- MedGen UID: 1372399
- Concept ID: C4476808
- Finding: Anatomical Abnormality
Abnormality of the eye
- Pendular nystagmus
Pendular nystagmus
- MedGen UID: 78770
- Concept ID: C0271388
- Finding: Disease or Syndrome
Abnormality of the eye
- Microcoria
- Abnormality of the musculoskeletal system
- Progressive macrocephaly
Progressive macrocephaly
- MedGen UID: 395368
- Concept ID: C1859896
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive macrocephaly
- Abnormality of the nervous system
- Abnormal dentate nucleus morphology
Abnormal dentate nucleus morphology
- MedGen UID: 867758
- Concept ID: C4022148
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Apathy
Apathy
- MedGen UID: 39083
- Concept ID: C0085632
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Bulbar signs
Bulbar signs
- MedGen UID: 347246
- Concept ID: C1856507
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Diffuse demyelination of the cerebral white matter
Diffuse demyelination of the cerebral white matter
- MedGen UID: 870483
- Concept ID: C4024930
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Drowsiness
Drowsiness
- MedGen UID: 4390
- Concept ID: C0013144
- Finding: Finding
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Increased CSF protein concentration
Increased CSF protein concentration
- MedGen UID: 329971
- Concept ID: C1806780
- Finding: Finding
Abnormality of the nervous system
- Palatal tremor
Palatal tremor
- MedGen UID: 45286
- Concept ID: C0030214
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Abnormal dentate nucleus morphology
- Constitutional symptom
- Fatigue
Fatigue
- MedGen UID: 41971
- Concept ID: C0015672
- Finding: Sign or Symptom
Constitutional symptom
- Fatigue
- AAP, 2021Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.
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