Disease Information for Alexander disease

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Clinical Manifestations
Signs & Symptoms
Dysphagia Progressive
Poor weight gain/child
Vomiting in Children
Muscle spasticity
Ataxia
Coordination/signs
Development Motor Skills (Milestones) Delayed
Head-size increasing/infant
Mental Deficiency Child
Progressive macrocephaly/infant/sign
Psychomotor regression/infant/child
Regressing neuromotor/skills child/signs
Seizures
Spasticity/Spastic gait
Staggering Gait
Psychomotor retardation
Macrocephaly/Large head
Megalocephaly
Children sicker than adults
Typical Clinical Presentation
Presentation/Death in childhood
Clinical Presentation & Variations
Presentation/Degenerative cerebral disease Progressive Child
Presentation/Progressive Dementia
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal
Course/median survival 10 years
Course/Progressive
Lethal Potential
Onset/Age Two Usual
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
Pathology
PATH/Brain abnormal
PATH/Brain Astrocytes enlarged mitochondria/dense
PATH/Brain Astrocytes Rosenthal fibers inclusions
PATH/Brain Glial Eosinophilic inclusion footplates
PATH/CNS/Fibrinoid astrocyte degeneration
CT Scan
MRI/Head Brain Abnormal
MRI/Head White matter lesions
Associated Diseases & Rule outs
Rule Outs
Canavan disease
Associated Disease & Complications
Alexander Disease
Bulbar paralysis
Developmental neurologic degeneration/child
Growth retardation/failure
Hydrocephalus
Leukodystrophy
Megaloencephaly
Mental retardation
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Mutism
Demyelinating Disease
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Frontal lobe involvement/disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Adult variant disease milder
Pathophysiology/Genetic congenital sporadic only
Pathophysiology/Obstruction fourth ventricle/CNS
Pathophysiology/Cerebral demyelination
Pathophysiology/CNS degeneration
Pathophysiology/Demyelination
Pathophysiology/Glial Fibrillary acid protein (GFAP) Gene Mutation
Pathophysiology/Hydrocephalus/Non-communicating
Pathophysiology/Neurologic degenerative disorder (ex)
Pathophysiology/Oligodendrocyte/CNS defective development
Pathophysiology/Duplication Chomosome mutation
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Developmental/delayed expression disorder (ex)
PROCESS/Disease with many subtypes (ex)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Developmental degenerative neurological disorder (ex)
PROCESS/Leukodystrophy process (ex)
Synonyms
Synonym
Alexander Disease, Alexander syndrome, Alexanders Disease, Alexander's Disease, Alexander's disease (disorder), demyelinogenic leukodystrophy, dysmyelinogenic leukodystrophy, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, macrocephaly with feeblemindedness and encephalopathy with peculiar deposits, megalencephaly with hyaline panneuropathy, Progressive astrocyte degeneration syndrome, Synonym/Fibrinoid degeneration of Astrocytes, Synonym/Leukodystrophy, dysmyelinogenic, Synonym/Macrocephaly/feeblemindedness/encephalopathy/deposits, Synonym/Megalencephaly/hyaline panneuropathy
Definition

A degenerative brain disease; Infantile type is characterized by a rapidly progressive course, seizures, psychomotor retardation, and hydrocephalus; Juvenile type is marked by a protracted course, bulbar palsy, ataxia, and sometimes mental retardation -------------------------------------------------Alexander Disease; Dysmyelogenic Leukodystrophy; Dysmyelogenic Leukodystrophy-Megalobare

Fibrinoid Degeneration of Astrocytes; Fibrinoid Leukodystrophy; Hyaline Panneuropathy; Leukodystrophy with Rosenthal Fibers; Megalencephaly with Hyaline Inclusion;

Megalencephaly with Hyaline Panneuropathy;

Alexander Disease is an extremely rare, progressive, neurological disorder that usually becomes apparent during infancy or early childhood; However, less commonly, cases have been described in which symptom onset has occurred in later childhood or adolescence (juvenile onset) or, rarely, during the third to fifth decades of life (adult onset); Alexander Disease belongs to a group of rare disorders known as leukodystrophies, which are characterized by degenerative changes of the white matter of the brain; More specifically, in Alexander Disease there is a lack of normal amounts of the protective, fatty material (myelin) that forms an insulating wrapping (sheath) around certain nerve fibers (axons); Myelin enables the efficient transmission of nerve impulses and provides the "whitish" appearance of the so-called white matter of the brain; Alexander Disease is characterized by deficient myelin formation in infants, and sometimes in juvenile cases, that is most prominent in the front (ie, frontal) lobes of the brain"s two hemispheres (cerebrum; The disorder is also associated with the formation of abnormal, fibrous deposits known as "Rosenthal fibers" throughout certain regions of the brain and spinal cord (central nervous system [CNS]);

In infants and young children affected by Alexander Disease, associated symptoms and findings include a failure to grow and gain weight at the expected rate (failure to thrive); delays in the development of certain physical, mental, and behavioral skills that are typically acquired at particular stages (psychomotor retardation); and progressive enlargement of the head (macrocephaly); Additional features typically include sudden episodes of uncontrolled electrical activity in the brain (seizures); abnormally increased muscle stiffness and restriction of movement (spasticity); and progressive neurological deterioration; In some cases, there is hydrocephalus; In most cases, Alexander Disease appears to occur randomly for unknown reasons (sporadically), with no family history of the disease; In an extremely small number of cases, it is thought that the disorder may have affected more than one family member--------[NORD 2005]--------------

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External Links Related to Alexander disease
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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