HIDEA syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
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{{Infobox medical condition | |||
| name = HIDEA syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = HIDEA syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Hypotonia]], [[Intellectual disability]], [[Deafness]], [[Eye abnormalities]], [[Progressive spasticity]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[PIGV]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]], [[Symptomatic treatment]] | |||
| medication = | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''HIDEA syndrome''' is a rare medical condition characterized by a constellation of symptoms and findings that include [[Hypotonia]], [[Intellectual Disability]], [[Developmental Delay]], [[Epilepsy]], and [[Autism spectrum disorder|Autism]]. The syndrome is named after the initial letters of these primary features. Due to its rarity and the complexity of its presentation, HIDEA syndrome poses significant challenges in diagnosis and management. | '''HIDEA syndrome''' is a rare medical condition characterized by a constellation of symptoms and findings that include [[Hypotonia]], [[Intellectual Disability]], [[Developmental Delay]], [[Epilepsy]], and [[Autism spectrum disorder|Autism]]. The syndrome is named after the initial letters of these primary features. Due to its rarity and the complexity of its presentation, HIDEA syndrome poses significant challenges in diagnosis and management. | ||
==Symptoms and Diagnosis== | ==Symptoms and Diagnosis== | ||
The primary symptoms of HIDEA syndrome are: | The primary symptoms of HIDEA syndrome are: | ||
* '''[[Hypotonia]]''': Decreased muscle tone, leading to floppiness. | * '''[[Hypotonia]]''': Decreased muscle tone, leading to floppiness. | ||
* '''[[Intellectual Disability]]''': Significant limitations in both intellectual functioning and in adaptive behavior. | * '''[[Intellectual Disability]]''': Significant limitations in both intellectual functioning and in adaptive behavior. | ||
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* '''[[Epilepsy]]''': A neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain. | * '''[[Epilepsy]]''': A neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain. | ||
* '''[[Autism spectrum disorder|Autism]]''': A developmental disorder characterized by difficulties with social interaction and communication, and by restricted and repetitive behavior. | * '''[[Autism spectrum disorder|Autism]]''': A developmental disorder characterized by difficulties with social interaction and communication, and by restricted and repetitive behavior. | ||
Diagnosis of HIDEA syndrome is primarily clinical, based on the observation of its characteristic symptoms. Genetic testing may be employed to rule out other conditions with similar presentations. | Diagnosis of HIDEA syndrome is primarily clinical, based on the observation of its characteristic symptoms. Genetic testing may be employed to rule out other conditions with similar presentations. | ||
==Etiology== | ==Etiology== | ||
The exact cause of HIDEA syndrome remains unknown. It is believed to involve a combination of genetic and environmental factors. Research into the genetic basis of the syndrome is ongoing, with the hope of identifying specific genetic mutations that may contribute to its development. | The exact cause of HIDEA syndrome remains unknown. It is believed to involve a combination of genetic and environmental factors. Research into the genetic basis of the syndrome is ongoing, with the hope of identifying specific genetic mutations that may contribute to its development. | ||
==Treatment and Management== | ==Treatment and Management== | ||
There is no cure for HIDEA syndrome, and treatment is symptomatic and supportive. Management strategies may include: | There is no cure for HIDEA syndrome, and treatment is symptomatic and supportive. Management strategies may include: | ||
* Physical therapy for hypotonia | * Physical therapy for hypotonia | ||
* Special education programs for intellectual disability and developmental delay | * Special education programs for intellectual disability and developmental delay | ||
* Medications to control seizures in epilepsy | * Medications to control seizures in epilepsy | ||
* Behavioral therapy for autism | * Behavioral therapy for autism | ||
Early intervention is crucial in managing the symptoms of HIDEA syndrome and in improving the quality of life for affected individuals. | Early intervention is crucial in managing the symptoms of HIDEA syndrome and in improving the quality of life for affected individuals. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with HIDEA syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. With appropriate support, many individuals with HIDEA syndrome can lead fulfilling lives. | The prognosis for individuals with HIDEA syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. With appropriate support, many individuals with HIDEA syndrome can lead fulfilling lives. | ||
==See Also== | ==See Also== | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Epilepsy]] | * [[Epilepsy]] | ||
* [[Autism spectrum disorder]] | * [[Autism spectrum disorder]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurodevelopmental disorders]] | [[Category:Neurodevelopmental disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 20:18, 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
| HIDEA syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Hypotonia, Intellectual disability, Deafness, Eye abnormalities, Progressive spasticity |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PIGV gene |
| Risks | |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care, Symptomatic treatment |
| Medication | |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | |
HIDEA syndrome is a rare medical condition characterized by a constellation of symptoms and findings that include Hypotonia, Intellectual Disability, Developmental Delay, Epilepsy, and Autism. The syndrome is named after the initial letters of these primary features. Due to its rarity and the complexity of its presentation, HIDEA syndrome poses significant challenges in diagnosis and management.
Symptoms and Diagnosis[edit]
The primary symptoms of HIDEA syndrome are:
- Hypotonia: Decreased muscle tone, leading to floppiness.
- Intellectual Disability: Significant limitations in both intellectual functioning and in adaptive behavior.
- Developmental Delay: Delay in reaching milestones in the domains of physical, cognitive, communication, social, and self-help skills.
- Epilepsy: A neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain.
- Autism: A developmental disorder characterized by difficulties with social interaction and communication, and by restricted and repetitive behavior.
Diagnosis of HIDEA syndrome is primarily clinical, based on the observation of its characteristic symptoms. Genetic testing may be employed to rule out other conditions with similar presentations.
Etiology[edit]
The exact cause of HIDEA syndrome remains unknown. It is believed to involve a combination of genetic and environmental factors. Research into the genetic basis of the syndrome is ongoing, with the hope of identifying specific genetic mutations that may contribute to its development.
Treatment and Management[edit]
There is no cure for HIDEA syndrome, and treatment is symptomatic and supportive. Management strategies may include:
- Physical therapy for hypotonia
- Special education programs for intellectual disability and developmental delay
- Medications to control seizures in epilepsy
- Behavioral therapy for autism
Early intervention is crucial in managing the symptoms of HIDEA syndrome and in improving the quality of life for affected individuals.
Prognosis[edit]
The prognosis for individuals with HIDEA syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. With appropriate support, many individuals with HIDEA syndrome can lead fulfilling lives.
See Also[edit]
