Differential diagnosis

SIMILAR SIGNS AND SYMPTOMS

The symptoms of Alexander disease overlap with many childhood and adult neurological conditions, and because it is a rare disease not often seen by healthcare providers, it may not be considered on the differential diagnosis.^1,4,50
Alexander disease should be considered in a differential diagnosis of people who present with suggestive clinical signs and symptoms, which vary based on age of onset.^13,23

A man reviews a wall of brain scans. [36]

DIFFERENTIAL DIAGNOSIS

Neurologic conditions with clinical symptoms similar to those of Alexander disease stratified by age of disease onset^{1,4,23,24,62,63,a:}

CHILDREN AND ADOLESCENTS
ADULTS

Adrenoleukodystrophy
Canavan disease
Krabbe disease
Brain tumors
Epilepsy
Metachromatic leukodystrophy
Glutaric acidurias
Zellweger spectrum disorder
Megalencephalic leukodystrophy
Leigh syndrome
Tay-Sachs disease
Hydrocephalus
Pelizaeus-Merzbacher disease

Multiple sclerosis
Multisystem atrophy
Amyotrophic lateral sclerosis
Brain tumors
X-linked adrenoleukodystrophy
Glutaric acidurias
Primary lateral sclerosis
Spinocerebellar ataxia
Cervical myelopathy
Neuromyelitis optica
Myasthenia gravis

Variation in the severity and progression of symptoms is high,4,9 and symptoms are not reliable predictors of outcomes.33 In some cases, different clinical presentations of Alexander disease may be present within the same family,36 and a family history may show related disorders such as multiple sclerosis or adult-onset neurodegenerative conditions.4

Genetic testing

If Alexander disease is suspected based on symptoms and/or MRI findings, genetic testing can confirm the diagnosis.

Learn about genetic testing