Case presentation Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis. [bmcpediatr.biomedcentral.com]

Ballooned neurons are present throughout the CNS. Clinical variation is noted. [emedicine.medscape.com]

Similarly, 5 non-consanguineous Galician heterozygous B1 variant carriers were identified, with all cases presenting the R178H mutation. [scielo.br]

Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down. [medlineplus.gov]

[…] anglais (EN) États désignés Titre (EN) METHODS FOR THE TREATMENT OF TAY-SACHS DISEASE, SANDHOFF DISEASE, AND GMI-GANGLIOSIDOSIS (FR) MÉTHODES DE TRAITEMENT DE LA MALADIE DE TAY-SACHS, DE LA MALADIE DE SANDHOFF, ET DES GANGLIOSIDOSES À GM1 Abrégé (EN) The present [patentscope.wipo.int]

• Falling

  "Tay-Sachssche Krankheit mit Hexosaminidase-Defekt (Klinische, morphologische und biochemische Befunde bei einem Fall mit viszeraler Speicherung von Nierenglobosid)". Dtsch Med Wochenschr. 93 (39): 1833–9. doi:10.1055/s-0028-1110836. [en.wikipedia.org]

• Asymptomatic

  […] year-old Hungarian man with no known Jewish ancestry was diagnosed with late-onset TSD following genetic testing, which identified a heterogeneous pathogenic mutation with both 1499T deletion and an 805G>A substitution in the HEXA gene. [11] Clinically asymptomatic [emedicine.medscape.com]

• Cough

  The patient also lacks the ability to cough and therefore must undergo a treatment to shake up their body to remove the mucus from the lining of their lungs. Medication is also given to patients to lessen their symptoms including seizures. [en.wikipedia.org]

• Irritability

  […] variant 0 Downhill course mostly less rapid than in early GM1-gangliosidosis Juvenile/subacute Onset by 3 to 6 years, dysarthria, loss of speech, spastic paraparesis, later on paraplegyf, pyramidal signsf, cerebellar ataxia, mental deterioration Seizures, irritability [jneurosci.org]

• Agitation

  Psychiatric abnormalities include acute hebephrenic schizophrenia, agitation, delusions, hallucinations, paranoia, and recurrent depression that may precede neurologic defects, but dementia is usually not prominent. [emedicine.medscape.com]

Workup and physical examination Both homozygotes and heterozygotes have a reduced concentration of sphingomyelin in their RBCs. Affected individuals have deficient Hex A activity and normal levels of the Hex B isozyme. [emedicine.medscape.com]

In particular, methods are provided for the treatment of Tay-Sachs disease, Sandhoff Disease, and GM1-gangliosidosis using enzyme replacement therapy. [patentscope.wipo.int]

[citation needed] Currently the government is testing several treatments including N-butyl-deoxynojirimycin in mice, as well as stem cell treatment in humans and other medical treatments recruiting test patients.[11] A Sandhoff disease study showing proof [en.wikipedia.org]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarehematologynews.com]

Medical care Enzyme replacement has not yet been successful. [13] Because no specific treatment is available for TSD, treatment is directed at the symptoms and major associated conditions. [emedicine.medscape.com]

Parents who receive a diagnosis of Tay-Sachs in their child will require a great deal of emotional, and medical support, in terms of understanding and coping with their child’s prognosis. Genetic counselors are trained to provide this support. [fdna.health]

This subacute phenotype of the B1 variant could be due to the presence of a defective allele, with the mutated Hex A conserving a residual in vivo activity against the GM2 ganglioside (1,7), although the prognosis of the disease is poor, with rapid deterioration [scielo.br]

News GM2-gangliosidosis, B, B1, AB variant Prevalence Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic [rarehematologynews.com]

[citation needed] Pathophysiology[edit] Biallelic pathogenic variants in the HEXB gene cause Sandhoff disease. [en.wikipedia.org]

Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. [medlineplus.gov]

“The aim of current therapeutic approaches is to prevent the production of GM2 for these hereditary storage diseases,” said Sandhoff, adding that drugs that are currently on the market only partially fulfill this requirement. [genengnews.com]

In 1970, TSD became the prototype for genetic disease prevention. North American individuals with a family history positive for a GM2 gangliosidosis or Ashkenazi Jewish heritage agreed to be tested. [emedicine.medscape.com]

Based on this, family was provided genetic counseling about the future recurrence risks of the disease and prevention by prenatal diagnosis. [bmcpediatr.biomedcentral.com]

Mutations in the HEXB gene disrupt the activity of these enzymes, preventing the breakdown of GM2 ganglioside and other molecules. [en.wikipedia.org]