Disease Information for Alpha-NAGA deficency (Schindler)

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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