Pseudo-Hurler polydystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = Pseudo-Hurler polydystrophy | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Pseudo-Hurler polydystrophy is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Mucolipidosis III]], ML III | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Joint stiffness]], [[skeletal abnormalities]], [[coarse facial features]], [[growth retardation]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[GNPTAB]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Hurler syndrome]], [[Hunter syndrome]], [[Morquio syndrome]] | |||
| treatment = [[Supportive care]], [[physical therapy]], [[pain management]] | |||
| prognosis = Variable, generally good with supportive care | |||
| frequency = Rare | |||
}} | |||
'''Pseudo-Hurler Polydystrophy''' is a rare genetic disorder characterized by progressive physical disability and mental deterioration. It is also known as '''Mucolipidosis III''' (ML III). | '''Pseudo-Hurler Polydystrophy''' is a rare genetic disorder characterized by progressive physical disability and mental deterioration. It is also known as '''Mucolipidosis III''' (ML III). | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Pseudo-Hurler Polydystrophy typically become apparent in early childhood and may include mild to moderate intellectual disability, skeletal abnormalities, and progressive physical disability. Affected individuals may also have coarse facial features, including a broad nose, thick lips, and enlarged tongue, as well as clouding of the corneas and hearing loss. | The symptoms of Pseudo-Hurler Polydystrophy typically become apparent in early childhood and may include mild to moderate intellectual disability, skeletal abnormalities, and progressive physical disability. Affected individuals may also have coarse facial features, including a broad nose, thick lips, and enlarged tongue, as well as clouding of the corneas and hearing loss. | ||
== Causes == | == Causes == | ||
Pseudo-Hurler Polydystrophy is caused by mutations in the GNPTAB gene. This gene provides instructions for making an enzyme that is involved in the breakdown and recycling of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the GNPTAB gene disrupt the normal function of this enzyme, leading to the accumulation of GAGs in cells throughout the body. This accumulation is believed to contribute to the signs and symptoms of Pseudo-Hurler Polydystrophy. | Pseudo-Hurler Polydystrophy is caused by mutations in the GNPTAB gene. This gene provides instructions for making an enzyme that is involved in the breakdown and recycling of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the GNPTAB gene disrupt the normal function of this enzyme, leading to the accumulation of GAGs in cells throughout the body. This accumulation is believed to contribute to the signs and symptoms of Pseudo-Hurler Polydystrophy. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Pseudo-Hurler Polydystrophy is based on a clinical examination, detailed patient history, and specialized tests. These tests may include enzyme assays, genetic testing, and imaging studies to assess the extent of skeletal abnormalities. | Diagnosis of Pseudo-Hurler Polydystrophy is based on a clinical examination, detailed patient history, and specialized tests. These tests may include enzyme assays, genetic testing, and imaging studies to assess the extent of skeletal abnormalities. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Pseudo-Hurler Polydystrophy. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage pain and other symptoms. In some cases, surgery may be necessary to address skeletal abnormalities. | There is currently no cure for Pseudo-Hurler Polydystrophy. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage pain and other symptoms. In some cases, surgery may be necessary to address skeletal abnormalities. | ||
== See Also == | == See Also == | ||
* [[Mucolipidosis]] | * [[Mucolipidosis]] | ||
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* [[Glycosaminoglycans]] | * [[Glycosaminoglycans]] | ||
* [[GNPTAB gene]] | * [[GNPTAB gene]] | ||
== References == | == References == | ||
* [[National Organization for Rare Disorders]] | * [[National Organization for Rare Disorders]] | ||
* [[Genetics Home Reference]] | * [[Genetics Home Reference]] | ||
* [[National Institutes of Health]] | * [[National Institutes of Health]] | ||
[[Category:Genetic Disorders]] | [[Category:Genetic Disorders]] | ||
[[Category:Rare Diseases]] | [[Category:Rare Diseases]] | ||
[[Category:Metabolic Disorders]] | [[Category:Metabolic Disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:22, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Pseudo-Hurler polydystrophy | |
|---|---|
| |
| Synonyms | Mucolipidosis III, ML III |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Joint stiffness, skeletal abnormalities, coarse facial features, growth retardation |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the GNPTAB gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Hurler syndrome, Hunter syndrome, Morquio syndrome |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy, pain management |
| Medication | N/A |
| Prognosis | Variable, generally good with supportive care |
| Frequency | Rare |
| Deaths | N/A |
Pseudo-Hurler Polydystrophy is a rare genetic disorder characterized by progressive physical disability and mental deterioration. It is also known as Mucolipidosis III (ML III).
Symptoms[edit]
The symptoms of Pseudo-Hurler Polydystrophy typically become apparent in early childhood and may include mild to moderate intellectual disability, skeletal abnormalities, and progressive physical disability. Affected individuals may also have coarse facial features, including a broad nose, thick lips, and enlarged tongue, as well as clouding of the corneas and hearing loss.
Causes[edit]
Pseudo-Hurler Polydystrophy is caused by mutations in the GNPTAB gene. This gene provides instructions for making an enzyme that is involved in the breakdown and recycling of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the GNPTAB gene disrupt the normal function of this enzyme, leading to the accumulation of GAGs in cells throughout the body. This accumulation is believed to contribute to the signs and symptoms of Pseudo-Hurler Polydystrophy.
Diagnosis[edit]
Diagnosis of Pseudo-Hurler Polydystrophy is based on a clinical examination, detailed patient history, and specialized tests. These tests may include enzyme assays, genetic testing, and imaging studies to assess the extent of skeletal abnormalities.
Treatment[edit]
There is currently no cure for Pseudo-Hurler Polydystrophy. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage pain and other symptoms. In some cases, surgery may be necessary to address skeletal abnormalities.
