PURA syndrome: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = PURA syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| image_size = 200px | |||
| alt = | |||
| caption = PURA syndrome is inherited in an [[autosomal dominant]] pattern. | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[hypotonia]], [[seizures]], [[respiratory problems]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[PURA gene]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]] | |||
| differential = | |||
| treatment = [[Supportive care]] | |||
| medication = [[Anticonvulsants]] | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder affecting neurological development}} | {{Short description|A rare genetic disorder affecting neurological development}} | ||
'''PURA syndrome''' is a rare genetic disorder characterized by developmental delay, hypotonia, and neurological abnormalities. It is caused by mutations in the [[PURA gene]], which plays a crucial role in the development and function of the nervous system. The condition is inherited in an [[autosomal dominant]] pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. | '''PURA syndrome''' is a rare genetic disorder characterized by developmental delay, hypotonia, and neurological abnormalities. It is caused by mutations in the [[PURA gene]], which plays a crucial role in the development and function of the nervous system. The condition is inherited in an [[autosomal dominant]] pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. | ||
== Genetics == | == Genetics == | ||
PURA syndrome is associated with mutations in the [[PURA gene]], located on chromosome 5. The gene encodes the purine-rich element binding protein A, which is involved in the regulation of [[DNA replication]] and [[RNA transcription]]. Mutations in this gene disrupt normal neurological development, leading to the symptoms observed in affected individuals. | PURA syndrome is associated with mutations in the [[PURA gene]], located on chromosome 5. The gene encodes the purine-rich element binding protein A, which is involved in the regulation of [[DNA replication]] and [[RNA transcription]]. Mutations in this gene disrupt normal neurological development, leading to the symptoms observed in affected individuals. | ||
== Clinical Features == | == Clinical Features == | ||
Individuals with PURA syndrome typically present with a range of neurological and developmental issues. Common features include: | Individuals with PURA syndrome typically present with a range of neurological and developmental issues. Common features include: | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Hypotonia]] (reduced muscle tone) | * [[Hypotonia]] (reduced muscle tone) | ||
| Line 18: | Line 33: | ||
* Feeding difficulties | * Feeding difficulties | ||
* [[Respiratory problems]] | * [[Respiratory problems]] | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of PURA syndrome is based on clinical evaluation and genetic testing. [[Whole exome sequencing]] or targeted gene panels can identify mutations in the PURA gene, confirming the diagnosis. | Diagnosis of PURA syndrome is based on clinical evaluation and genetic testing. [[Whole exome sequencing]] or targeted gene panels can identify mutations in the PURA gene, confirming the diagnosis. | ||
== Management == | == Management == | ||
There is currently no cure for PURA syndrome, and treatment is symptomatic and supportive. Management strategies may include: | There is currently no cure for PURA syndrome, and treatment is symptomatic and supportive. Management strategies may include: | ||
* [[Physical therapy]] to improve muscle tone and motor skills | * [[Physical therapy]] to improve muscle tone and motor skills | ||
* [[Occupational therapy]] to assist with daily living activities | * [[Occupational therapy]] to assist with daily living activities | ||
* [[Speech therapy]] to address communication difficulties | * [[Speech therapy]] to address communication difficulties | ||
* [[Anticonvulsant medications]] to control seizures | * [[Anticonvulsant medications]] to control seizures | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with PURA syndrome varies depending on the severity of symptoms. While some individuals may achieve developmental milestones with support, others may have significant lifelong challenges. | The prognosis for individuals with PURA syndrome varies depending on the severity of symptoms. While some individuals may achieve developmental milestones with support, others may have significant lifelong challenges. | ||
== See Also == | |||
== | |||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Neurological disorders]] | * [[Neurological disorders]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 06:30, 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
| PURA syndrome | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, hypotonia, seizures, respiratory problems |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PURA gene |
| Risks | |
| Diagnosis | Genetic testing |
| Differential diagnosis | |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | Anticonvulsants |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder affecting neurological development
PURA syndrome is a rare genetic disorder characterized by developmental delay, hypotonia, and neurological abnormalities. It is caused by mutations in the PURA gene, which plays a crucial role in the development and function of the nervous system. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
Genetics[edit]
PURA syndrome is associated with mutations in the PURA gene, located on chromosome 5. The gene encodes the purine-rich element binding protein A, which is involved in the regulation of DNA replication and RNA transcription. Mutations in this gene disrupt normal neurological development, leading to the symptoms observed in affected individuals.
Clinical Features[edit]
Individuals with PURA syndrome typically present with a range of neurological and developmental issues. Common features include:
- Developmental delay
- Hypotonia (reduced muscle tone)
- Seizures
- Intellectual disability
- Feeding difficulties
- Respiratory problems
Diagnosis[edit]
Diagnosis of PURA syndrome is based on clinical evaluation and genetic testing. Whole exome sequencing or targeted gene panels can identify mutations in the PURA gene, confirming the diagnosis.
Management[edit]
There is currently no cure for PURA syndrome, and treatment is symptomatic and supportive. Management strategies may include:
- Physical therapy to improve muscle tone and motor skills
- Occupational therapy to assist with daily living activities
- Speech therapy to address communication difficulties
- Anticonvulsant medications to control seizures
Prognosis[edit]
The prognosis for individuals with PURA syndrome varies depending on the severity of symptoms. While some individuals may achieve developmental milestones with support, others may have significant lifelong challenges.
