Sandhoff disease: Difference between revisions
From WikiMD's Wellness Encyclopedia
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[[File:Autosomal_recessive_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Sandhoff disease | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Sandhoff disease is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Developmental delay]], [[muscle weakness]], [[seizures]], [[vision loss]], [[hearing loss]] | |||
| onset = Infancy | |||
| duration = Progressive | |||
| types = Infantile, Juvenile, Adult | |||
| causes = Mutations in the [[HEXB]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[enzyme assay]] | |||
| differential = [[Tay–Sachs disease]], [[GM1 gangliosidosis]] | |||
| prevention = Genetic counseling | |||
| treatment = Supportive care | |||
| medication = | |||
| prognosis = Poor | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Sandhoff disease''' is a rare, inherited [[lysosomal storage disorder]] that results from the deficiency of the enzyme [[beta-hexosaminidase]]. This enzyme deficiency leads to the accumulation of certain lipids, specifically [[GM2 ganglioside]], in the [[neurons]] of the [[central nervous system]]. Sandhoff disease is one of the [[GM2 gangliosidoses]], which also includes [[Tay-Sachs disease]]. | |||
== Genetics == | == Genetics == | ||
Sandhoff 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 develop the disease. The gene responsible for Sandhoff disease is the [[HEXB gene]], which encodes the beta subunit of the enzyme beta-hexosaminidase. Mutations in the HEXB gene disrupt the normal function of the enzyme, leading to the accumulation of GM2 ganglioside. | Sandhoff 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 develop the disease. The gene responsible for Sandhoff disease is the [[HEXB gene]], which encodes the beta subunit of the enzyme beta-hexosaminidase. Mutations in the HEXB gene disrupt the normal function of the enzyme, leading to the accumulation of GM2 ganglioside. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Sandhoff disease typically appear in infancy and progress rapidly. Common symptoms include: | The symptoms of Sandhoff disease typically appear in infancy and progress rapidly. Common symptoms include: | ||
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* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Cherry-red spot]] on the [[macula]] | * [[Cherry-red spot]] on the [[macula]] | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Sandhoff disease involves a combination of clinical evaluation, [[family history]], and specialized tests. These tests may include: | Diagnosis of Sandhoff disease involves a combination of clinical evaluation, [[family history]], and specialized tests. These tests may include: | ||
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* [[Genetic testing]] to identify mutations in the HEXB gene | * [[Genetic testing]] to identify mutations in the HEXB gene | ||
* [[MRI]] to detect brain abnormalities | * [[MRI]] to detect brain abnormalities | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Sandhoff disease. Treatment is primarily supportive and focuses on managing symptoms and improving quality of life. This may include: | There is currently no cure for Sandhoff disease. Treatment is primarily supportive and focuses on managing symptoms and improving quality of life. This may include: | ||
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* [[Occupational therapy]] to assist with daily activities | * [[Occupational therapy]] to assist with daily activities | ||
* [[Nutritional support]] to ensure adequate nutrition | * [[Nutritional support]] to ensure adequate nutrition | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Sandhoff disease is poor. Most affected children do not survive beyond early childhood due to the rapid progression of the disease and its complications. | The prognosis for individuals with Sandhoff disease is poor. Most affected children do not survive beyond early childhood due to the rapid progression of the disease and its complications. | ||
== See also == | |||
== | |||
* [[Tay-Sachs disease]] | * [[Tay-Sachs disease]] | ||
* [[Lysosomal storage disorder]] | * [[Lysosomal storage disorder]] | ||
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* [[HEXB gene]] | * [[HEXB gene]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Neurological disorder]] | * [[Neurological disorder]] | ||
* [[Inherited metabolic disorder]] | * [[Inherited metabolic disorder]] | ||
{{GM2 gangliosidoses}} | {{GM2 gangliosidoses}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Lysosomal storage diseases]] | [[Category:Lysosomal storage diseases]] | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
Latest revision as of 16:02, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Sandhoff disease | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Neurology, Genetics |
| Symptoms | Developmental delay, muscle weakness, seizures, vision loss, hearing loss |
| Complications | N/A |
| Onset | Infancy |
| Duration | Progressive |
| Types | Infantile, Juvenile, Adult |
| Causes | Mutations in the HEXB gene |
| Risks | |
| Diagnosis | Genetic testing, enzyme assay |
| Differential diagnosis | Tay–Sachs disease, GM1 gangliosidosis |
| Prevention | Genetic counseling |
| Treatment | Supportive care |
| Medication | |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | |
Sandhoff disease is a rare, inherited lysosomal storage disorder that results from the deficiency of the enzyme beta-hexosaminidase. This enzyme deficiency leads to the accumulation of certain lipids, specifically GM2 ganglioside, in the neurons of the central nervous system. Sandhoff disease is one of the GM2 gangliosidoses, which also includes Tay-Sachs disease.
Genetics[edit]
Sandhoff 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 develop the disease. The gene responsible for Sandhoff disease is the HEXB gene, which encodes the beta subunit of the enzyme beta-hexosaminidase. Mutations in the HEXB gene disrupt the normal function of the enzyme, leading to the accumulation of GM2 ganglioside.
Symptoms[edit]
The symptoms of Sandhoff disease typically appear in infancy and progress rapidly. Common symptoms include:
- Muscle weakness
- Motor skill regression
- Seizures
- Vision loss
- Hearing loss
- Intellectual disability
- Cherry-red spot on the macula
Diagnosis[edit]
Diagnosis of Sandhoff disease involves a combination of clinical evaluation, family history, and specialized tests. These tests may include:
- Enzyme assay to measure beta-hexosaminidase activity
- Genetic testing to identify mutations in the HEXB gene
- MRI to detect brain abnormalities
Treatment[edit]
There is currently no cure for Sandhoff disease. Treatment is primarily supportive and focuses on managing symptoms and improving quality of life. This may include:
- Anticonvulsant medications for seizures
- Physical therapy to maintain mobility
- Occupational therapy to assist with daily activities
- Nutritional support to ensure adequate nutrition
Prognosis[edit]
The prognosis for individuals with Sandhoff disease is poor. Most affected children do not survive beyond early childhood due to the rapid progression of the disease and its complications.
See also[edit]
- Tay-Sachs disease
- Lysosomal storage disorder
- GM2 gangliosidosis
- HEXB gene
- Autosomal recessive inheritance
