Proud syndrome: Difference between revisions
Created page with "'''Other Names:''' New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; Corpus callosum, agenesis of, with abnormal genitalia; ACC..." Tag: visualeditor-wikitext |
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{{Infobox medical condition | |||
| name = Proud syndrome | |||
| image = [[File:X-linked_recessive_(2).svg|200px]] | |||
| caption = X-linked recessive inheritance | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = Intellectual disability, [[hypotonia]], [[seizures]], [[microcephaly]], [[growth retardation]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]], [[physical therapy]], [[occupational therapy]] | |||
| medication = [[Anticonvulsants]] | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
'''Other Names:''' New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; Corpus callosum, agenesis of, with abnormal genitalia; ACC with abnormal genitalia | '''Other Names:''' New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; Corpus callosum, agenesis of, with abnormal genitalia; ACC with abnormal genitalia | ||
Proud syndrome is a rare neurological condition that is primarily characterized by severe [[intellectual disability]], [[agenesis]] of the [[corpus callosum]], [[seizure]]s, and [[spasticity]]. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. | Proud syndrome is a rare neurological condition that is primarily characterized by severe [[intellectual disability]], [[agenesis]] of the [[corpus callosum]], [[seizure]]s, and [[spasticity]]. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. | ||
== '''Cause''' == | == '''Cause''' == | ||
Proud syndrome is caused by changes (mutations) in the''' ARX gene''', which encodes a [[protein]] that regulates the activity of other genes. '''This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles)'''. | Proud syndrome is caused by changes (mutations) in the''' ARX gene''', which encodes a [[protein]] that regulates the activity of other genes. '''This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles)'''. | ||
For example, the protein helps regulate the process by which cells mature to carry out specific functions (differentiation) within the pancreas, testes, and muscles. In the developing brain, it plays many different roles such as assisting with the movement of [[neurons]] to their final locations. '''Specific changes in the ARX gene impair the function of the protein, which may disrupt the normal development of many different parts of the body.''' This can lead to the many signs and symptoms associated with Proud syndrome. | For example, the protein helps regulate the process by which cells mature to carry out specific functions (differentiation) within the pancreas, testes, and muscles. In the developing brain, it plays many different roles such as assisting with the movement of [[neurons]] to their final locations. '''Specific changes in the ARX gene impair the function of the protein, which may disrupt the normal development of many different parts of the body.''' This can lead to the many signs and symptoms associated with Proud syndrome. | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
Proud syndrome is inherited in an [[X-linked recessive]] manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. | Proud syndrome is inherited in an [[X-linked recessive]] manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. | ||
In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. | In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
The most common signs and symptoms of Proud syndrome are: | The most common signs and symptoms of Proud syndrome are: | ||
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* Stiff and/or rigid muscles (spasticity) | * Stiff and/or rigid muscles (spasticity) | ||
Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. [[cryptorchidism]], [[hypospadias]]). | Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. [[cryptorchidism]], [[hypospadias]]). | ||
Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. | Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
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* Short stature(Decreased body height) | * Short stature(Decreased body height) | ||
* [[Spasticity]](Involuntary muscle stiffness, contraction, or spasm) | * [[Spasticity]](Involuntary muscle stiffness, contraction, or spasm) | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
* Abnormal hair pattern(Abnormal distribution of hair) | * Abnormal hair pattern(Abnormal distribution of hair) | ||
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* [[Scoliosis]] | * [[Scoliosis]] | ||
* [[Strabismus]](Cross-eyed) | * [[Strabismus]](Cross-eyed) | ||
5%-29% of people have these symptoms | 5%-29% of people have these symptoms | ||
* Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells) | * Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells) | ||
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* Renal hypoplasia/aplasia(Absent/small kidney) | * Renal hypoplasia/aplasia(Absent/small kidney) | ||
* [[Tetraplegia]](Paralysis of all four limbs) | * [[Tetraplegia]](Paralysis of all four limbs) | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
Molecular Genetics Tests: | Molecular Genetics Tests: | ||
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Sequence analysis of the entire coding region | Sequence analysis of the entire coding region | ||
Targeted variant analysis | Targeted variant analysis | ||
== '''Treatment''' == | == '''Treatment''' == | ||
The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent [[seizures]]. Surgery may be required to treat certain physical abnormalities such as kidney or genital issues. Children with severe intellectual disability may benefit from special education services. | The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent [[seizures]]. Surgery may be required to treat certain physical abnormalities such as kidney or genital issues. Children with severe intellectual disability may benefit from special education services. | ||
{{rarediseases}} | {{rarediseases}} | ||
{{stub}} | {{stub}} | ||
Latest revision as of 05:30, 6 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
| Proud syndrome | |
|---|---|
| File:X-linked recessive (2).svg | |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, hypotonia, seizures, microcephaly, growth retardation |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care, physical therapy, occupational therapy |
| Medication | Anticonvulsants |
| Prognosis | |
| Frequency | |
| Deaths | |
Other Names: New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; Corpus callosum, agenesis of, with abnormal genitalia; ACC with abnormal genitalia
Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.
Cause[edit]
Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles). For example, the protein helps regulate the process by which cells mature to carry out specific functions (differentiation) within the pancreas, testes, and muscles. In the developing brain, it plays many different roles such as assisting with the movement of neurons to their final locations. Specific changes in the ARX gene impair the function of the protein, which may disrupt the normal development of many different parts of the body. This can lead to the many signs and symptoms associated with Proud syndrome.
Inheritance[edit]
Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.
Signs and symptoms[edit]
The most common signs and symptoms of Proud syndrome are:
- Agenesis of the corpus callosum
- Severe intellectual disability
- Seizures
- Stiff and/or rigid muscles (spasticity)
Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. cryptorchidism, hypospadias). Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Agenesis of corpus callosum
- Intellectual disability, severe(Early and severe mental retardation)
- Microcephaly(Abnormally small skull)
- Seizure
- Severe global developmental delay
- Short stature(Decreased body height)
- Spasticity(Involuntary muscle stiffness, contraction, or spasm)
30%-79% of people have these symptoms
- Abnormal hair pattern(Abnormal distribution of hair)
- Abnormality of the hip bone(Abnormality of the hips)
- Coarse facial features(Coarse facial appearance)
- Generalized hirsutism(Excessive hairiness over body)
- Nystagmus(Involuntary, rapid, rhythmic eye movements)
- Protruding ear(Prominent ear)
- Scoliosis
- Strabismus(Cross-eyed)
5%-29% of people have these symptoms
- Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
- Hypospadias
- Inguinal hernia
- Renal dysplasia
- Renal hypoplasia/aplasia(Absent/small kidney)
- Tetraplegia(Paralysis of all four limbs)
Diagnosis[edit]
Molecular Genetics Tests: Deletion/duplication analysis Sequence analysis of select exons Sequence analysis of the entire coding region Targeted variant analysis
Treatment[edit]
The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizures. Surgery may be required to treat certain physical abnormalities such as kidney or genital issues. Children with severe intellectual disability may benefit from special education services.
NIH genetic and rare disease info[edit]
Proud syndrome is a rare disease.
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Rare diseases - Proud syndrome
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