Deepika vegiraju: Created page with "== '''Alternate names''' == PRTS; Intellectual disability, X-linked, syndromic 1; MRXS1; Intelectual disability-dystonic movements-ataxia-seizures syndrome; Intellectual disab..."

2021-04-13T12:07:46Z

Created page with "== '''Alternate names''' == PRTS; Intellectual disability, X-linked, syndromic 1; MRXS1; Intelectual disability-dystonic movements-ataxia-seizures syndrome; Intellectual disab..."

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== '''Alternate names''' ==
PRTS; Intellectual disability, X-linked, syndromic 1; MRXS1; Intelectual disability-dystonic movements-ataxia-seizures syndrome; Intellectual disability, X-linked, with dystonic movements, ataxia, and seizures

== '''Definition''' ==
Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate [[intellectual disability]] and [[dystonia]] of the hands.

== '''Cause''' ==
* Partington syndrome is caused by changes (mutations) in the '''ARX gene''', which '''encodes a protein that regulates the activity of other genes'''.
* This protein is particularly '''important in the developing brain''' where it plays many roles (i.e. '''assisting with the movement and communication of neurons''').

== '''Gene mutations''' ==
* Specific''' changes in the ARX gene impair the function of the protein, which may disrupt normal neuronal migration'''.
* This can lead to the many signs and symptoms associated with Partington syndrome.

== '''Inheritance''' ==
[[File:X-linked recessive (2).svg|thumb|right|upright=1.75|X-linked recessive inheritance]]
* Partington 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''' ==
The signs and symptoms of Partington syndrome vary but may include:
* Mild to moderate [[intellectual disability]]
* Behavioral issues
* [[Dystonia]], especially affecting the movement of the hands
* [[Dysarthria]]
* Abnormal [[gait]] (style of walking)
* Recurrent [[seizures]]
Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.

== '''Clinical presentation''' ==
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'''
* Limb [[dystonia]]
* Triangular face(Face with broad temples and narrow chin)

'''30%-79% of people have these symptoms'''
* [[Dysarthria]](Difficulty articulating speech)
* [[Gait]] disturbance(Abnormal gait)
* [[Intellectual disability]], mild(Mental retardation, borderline-mild)
* [[Intellectual disability]], moderate(IQ between 34 and 49)
* Lower limb [[spasticity]]
* [[Macroorchidism]](Large testis)

'''5%-29% of people have these symptoms'''
* Delayed speech and language development(Deficiency of speech development)
* [[EEG]] abnormality
* Facial [[telangiectasia]]
* [[Seizure]]

'''1%-4% of people have these symptoms'''
* Behavioral abnormality(Behavioral changes)
* [[Camptodactyly]](Permanent flexion of the finger or toe)
* Focal [[dystonia]]
* Infantile [[spasm]]s
* Intellectual disability(Mental deficiency)

== '''Diagnosis''' ==
Molecular Genetics Tests may include:
* Targeted variant analysis
* Deletion/duplication analysis
* Sequence analysis of select exons
* Sequence analysis of the entire coding region

== '''Treatment''' ==
The treatment of Partington syndrome is based on the signs and symptoms present in each person.
For example, [[dystonia]] of the hands and other parts of the body may be treated with a variety of therapies including medications and/or [[physical therapy]].
[[Speech therapy]] may be recommended for children with [[dysarthria]].
Medications may be prescribed to help prevent and/or control recurrent [[seizures]].
Children with mild to moderate [[intellectual disability]] may benefit from special education services.

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Partington syndrome - Revision history

Deepika vegiraju: Created page with "== '''Alternate names''' == PRTS; Intellectual disability, X-linked, syndromic 1; MRXS1; Intelectual disability-dystonic movements-ataxia-seizures syndrome; Intellectual disab..."