Disease Information for Alpha-NAGA deficency (Schindler)

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Clinical Manifestations
Signs & Symptoms
Angiokeratosis/skin
Hypotonia
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Neurologic manifestations/signs
Nystagmus
Psychomotor regression/infant/child
Seizures
Slow Motor Development
Psychomotor retardation
Coarsened facial features
Weakness
Vision Loss
True Vertigo Sign Confirmed
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive
Onset infancy/worst variant
Onset/Age one
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Young Adult
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Young adult
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Alpha-NAGA deficiency (Schindler)
Mental retardation
Seizure disorder (epilepsy)
Telangiectasia
Visual acuity loss
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Alpha-N-acetylgalactoaminidase deficency
Pathophysiology/Gene locus 22q11
Pathophysiology/Gene locus Chromosome 22q
Pathophysiology/Gene locus long arm 22 (22q11)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Bimodal age distribution/incidence
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Glycolipid storage disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Neurocutaneous developmental disorder (ex)
PROCESS/Storage disorder (ex)
PROCESS/Developmental degenerative neurological disorder (ex)
Synonyms
Synonym
Alpha NAGA deficency (Schindler), Synonym/Alpha-Galactosidase B deficency, Synonym/Kazaki disease/neuroaxonal dystrophy adult variant
Definition

Schindler Disease; Alpha-GalNAc Deficiency, Schindler Type

Alpha-Galactosidase B Deficiency; Alpha-N-Acetylgalactosaminidase Deficiency, Schindler Type;

Alpha-NAGA Deficiency, Schindler Type; GALB Deficiency

Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency, Schindler Type; Neuroaxonal Dystrophy, Schindler Type

Neuronal Axonal Dystrophy, Schindler Type;

Adult Onset Schindler Disease; Angiokeratoma Corporis Diffusum-Glycopeptiduria; Classic Schindler Disease

Infantile Onset Schindler Disease ; Kanzaki Disease

Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum; Schindler Disease, Infantile Onset

Schindler Disease, Type I (Infantile Onset); Schindler Disease, Type II (Adult Onset); Schindler Disease is a rare inherited metabolic disorder characterized by a deficiency of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA); There are two forms of Schindler Disease; The classical form of the disorder, known as Schindler Disease, Type I, has an infantile onset; Affected individuals appear to develop normally until approximately 1 year of age, when they begin to lose previously acquired skills that require the coordination of physical and mental activities (developmental regression); Additional neurological and neuromuscular symptoms may become apparent, including diminished muscle tone (hypotonia) and weakness; involuntary, rapid eye movements (nystagmus); visual impairment; and episodes of uncontrolled electrical activity in the brain (seizures); With continuing disease progression, affected children typically develop restricted movements of certain muscles due to progressively increased muscle rigidity, severe mental retardation, hearing and visual impairment, and a lack of response to stimuli in the environment;

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External Links Related to Alpha-NAGA deficency (Schindler)
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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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