What is it?
A rare disease found in humans also known as Kanzaki disease and/or alpha-N-acetylgalactosaminidase deficiency.
There are three main types of the disease each with its own distinctive symptoms.[4]
- Type I infantile form, infants will develop normally until about a year old. At this time, the affected infant will begin to lose previously acquired skills involving the coordination of physical and mental behaviors. Additional neurological and neuromuscular symptoms such as diminished muscle tone, weakness, involuntary rapid eye movements, vision loss, and seizures may become present. With time, the symptoms worsen and children affected with this disorder will experience a decreased ability to move certain muscles due to muscle rigidity. The ability to respond to external stimuli will also decrease. Other symptoms include neuroaxonal dystrophy from birth, discoloration of skin, Telangiectasia or widening of blood vessels.
- Type II adult form, symptoms are milder and may not appear until the individual is in his or her 30s. Angiokeratomas, an increased coarsening of facial features, and mild intellectual impairment are likely symptoms.
- Type III is considered an intermediate disorder. Symptoms vary and can include to be more severe with seizures and mental retardation, or less severe with delayed speech, a mild autistic like presentation, and/or behavioural problems.
Complications /Information to beware of/General tips:
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
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References
- Wang AM, Schindler D, Desnick R (November 1990). “Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy”. J. Clin. Invest. 86 (5): 1752–6. PMC 296929 . PMID 2243144. doi:10.1172/JCI114901.
- Online Mendelian Inheritance in Man (OMIM) 609241
- Cantz M, Ulrich-Bott B (1990). “Disorders of glycoprotein degradation”. J. Inherit. Metab. Dis. 13 (4): 523–37. PMID 2122119. doi:10.1007/BF01799510.
- “Schindler disease”. International Advocate for Glycoprotein Storage Diseases. (International Society for Mannosidosis & Related Diseases, ISMRD). Retrieved 2008-11-13.
- “Schindler Disease”. National Organization for Rare Disorders (NORD). Retrieved 2008-11-13.
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