PURA syndrome: Difference between revisions

Revision as of 11:44, 15 February 2025

A rare genetic disorder affecting neurological development

Overview

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

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

Individuals with PURA syndrome typically present with a range of neurological and developmental issues. Common features include:

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

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

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.

Related pages

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-PURA Syndrome
+{{Short description|A rare genetic disorder affecting neurological development}}
-PURA Syndrome is a rare genetic disorder characterized by developmental delay, hypotonia, and a variety of neurological and systemic manifestations. It is caused by mutations in the PURA gene, which plays a crucial role in the development and function of the nervous system.
+{{Use dmy dates|date=October 2023}}
 == Overview ==
-PURA Syndrome is a condition that affects multiple systems of the body, primarily impacting neurological development. It is named after the PURA gene, which is located on chromosome 5. The syndrome was first described in 2014, and since then, several cases have been identified worldwide.
+'''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 ==
-The [[PURA gene]] provides instructions for making a protein that is involved in the regulation of gene expression and is crucial for normal brain development. Mutations in this gene lead to the symptoms observed in PURA Syndrome. These mutations are typically de novo, meaning they occur spontaneously and are not inherited from the parents.
+[[File:Autosomal_dominant_-_en.svg|thumb|right|Diagram showing autosomal dominant inheritance.]]
+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 ==
-Individuals with PURA Syndrome often present with:
+Individuals with PURA syndrome typically present with a range of neurological and developmental issues. Common features include:
-* '''[[Developmental Delay]]''': Most children with PURA Syndrome experience significant delays in reaching developmental milestones such as sitting, walking, and talking.
-* '''[[Hypotonia]]''': Low muscle tone is a common feature, leading to difficulties with movement and posture.
+* [[Developmental delay]]
-* '''[[Seizures]]''': Many affected individuals experience seizures, which can vary in type and severity.
+* [[Hypotonia]] (reduced muscle tone)
-* '''[[Feeding Difficulties]]''': Infants may have trouble feeding due to poor muscle tone and coordination.
+* [[Seizures]]
-* '''[[Sleep Disturbances]]''': Sleep problems, including difficulty falling asleep and staying asleep, are frequently reported.
+* [[Intellectual disability]]
+* Feeding difficulties
+* [[Respiratory problems]]
 == Diagnosis ==
-Diagnosis of PURA Syndrome is typically made through genetic testing, specifically through sequencing of the PURA gene. Clinical evaluation and observation of characteristic symptoms also support 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 ==
-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.
-* '''[[Speech Therapy]]''': To assist with communication difficulties.
+* [[Physical therapy]] to improve muscle tone and motor skills
-* '''[[Occupational Therapy]]''': To help with daily living skills.
+* [[Occupational therapy]] to assist with daily living activities
-* '''[[Seizure Management]]''': Antiepileptic medications may be prescribed to control seizures.
+* [[Speech therapy]] to address communication difficulties
-== Research and Future Directions ==
+* [[Anticonvulsant medications]] to control seizures
-Research into PURA Syndrome is ongoing, with efforts focused on understanding the underlying mechanisms of the disorder and developing targeted therapies. Genetic studies continue to identify new mutations and expand the phenotypic spectrum of the syndrome.
-== See Also ==
+== Prognosis ==
-* [[Developmental Delay]]
+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.
-* [[Hypotonia]]
-* [[Genetic Disorders]]
+== Related pages ==
+* [[Genetic disorders]]
+* [[Neurological disorders]]
+* [[Developmental delay]]
-== External Links ==
-* [PURA Syndrome Foundation](https://www.purasyndrome.org)
-* [https://rarediseases.info.nih.gov Genetic and Rare Diseases Information Center]
-{{rare diseases}}
 [[Category:Genetic disorders]]
 [[Category:Neurological disorders]]
-[[Category:Rare diseases]]