Sandhoff-Jatzkewitz-Pilz disease
=Sandhoff-Jatzkewitz-Pilz Disease =
Sandhoff-Jatzkewitz-Pilz disease is a rare, inherited neurodegenerative disorder that is classified as a type of GM2 gangliosidosis. It is characterized by a deficiency in the enzyme beta-hexosaminidase, which leads to the accumulation of GM2 gangliosides in the nerve cells of the brain. This accumulation causes progressive damage to the nervous system.
History[edit | edit source]
The disease was first described by Konrad Sandhoff, H. Jatzkewitz, and H. Pilz in the 1960s. Their research identified the biochemical basis of the disorder and distinguished it from other similar conditions, such as Tay-Sachs disease.
Genetics[edit | edit source]
Sandhoff-Jatzkewitz-Pilz disease is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The gene responsible for the condition is located on chromosome 5 and is known as the HEXB gene.
Pathophysiology[edit | edit source]
The deficiency of the beta-hexosaminidase enzyme in Sandhoff-Jatzkewitz-Pilz disease leads to the accumulation of GM2 gangliosides, primarily in the neurons. This accumulation disrupts normal cellular function and leads to the progressive neurological symptoms observed in affected individuals.
Clinical Features[edit | edit source]
Symptoms of Sandhoff-Jatzkewitz-Pilz disease typically begin in infancy and may include:
- Developmental delay
- Muscle weakness
- Loss of motor skills
- Seizures
- Vision and hearing loss
- Cherry-red spot on the retina
Diagnosis[edit | edit source]
Diagnosis is based on clinical examination, family history, and biochemical tests that measure the activity of the beta-hexosaminidase enzyme. Genetic testing can confirm mutations in the HEXB gene.
Treatment[edit | edit source]
Currently, there is no cure for Sandhoff-Jatzkewitz-Pilz disease. Treatment is supportive and focuses on managing symptoms and improving quality of life. This may include physical therapy, medications to control seizures, and nutritional support.
Research[edit | edit source]
Ongoing research is focused on developing gene therapy and enzyme replacement therapy as potential treatments for Sandhoff-Jatzkewitz-Pilz disease. Advances in understanding the genetic and molecular basis of the disease may lead to new therapeutic approaches.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Sandhoff-Jatzkewitz-Pilz disease is a rare disease.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
