Partington syndrome

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

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 spasms
• 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.

NIH genetic and rare disease info

• NIH info on Partington syndrome

Partington syndrome is a rare disease.

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